SNP Links for Protein (Select 122891870) - SNP

Links from Protein

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Select item 14908768421.

rs1490876842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:222630299 (GRCh38)
1:222803641 (GRCh37)
Canonical SPDI:: NC_000001.11:222630298:T:A
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222630299T>A, NC_000001.10:g.222803641T>A, XM_006711304.5:c.3079T>A, XM_006711304.4:c.3079T>A, XM_006711304.3:c.3328T>A, XM_006711304.2:c.3079T>A, XM_006711304.1:c.3079T>A, NM_198551.4:c.3079T>A, NM_198551.3:c.3079T>A, NM_198551.2:c.3079T>A, XM_011509513.4:c.3079T>A, XM_011509513.3:c.3079T>A, XM_011509513.2:c.3328T>A, XM_011509513.1:c.3079T>A, XM_017001243.3:c.2587T>A, XM_017001243.2:c.2587T>A, XM_017001243.1:c.2587T>A, NM_001324062.2:c.3079T>A, NM_001324062.1:c.3079T>A, NM_001324064.2:c.2587T>A, NM_001324064.1:c.2587T>A, NM_001324063.2:c.3079T>A, NM_001324063.1:c.3079T>A, XP_006711367.3:p.Phe1027Ile, NP_940953.2:p.Phe1027Ile, XP_011507815.3:p.Phe1027Ile, XP_016856732.1:p.Phe863Ile, NP_001310991.1:p.Phe1027Ile, NP_001310993.1:p.Phe863Ile, NP_001310992.1:p.Phe1027Ile

Select item 14903174732.

rs1490317473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:222630145 (GRCh38)
1:222803487 (GRCh37)
Canonical SPDI:: NC_000001.11:222630144:A:G,NC_000001.11:222630144:A:T
Gene:: MIA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.222630145A>G, NC_000001.11:g.222630145A>T, NC_000001.10:g.222803487A>G, NC_000001.10:g.222803487A>T, XM_006711304.5:c.2925A>G, XM_006711304.5:c.2925A>T, XM_006711304.4:c.2925A>G, XM_006711304.4:c.2925A>T, XM_006711304.3:c.3174A>G, XM_006711304.3:c.3174A>T, XM_006711304.2:c.2925A>G, XM_006711304.2:c.2925A>T, XM_006711304.1:c.2925A>G, XM_006711304.1:c.2925A>T, NM_198551.4:c.2925A>G, NM_198551.4:c.2925A>T, NM_198551.3:c.2925A>G, NM_198551.3:c.2925A>T, NM_198551.2:c.2925A>G, NM_198551.2:c.2925A>T, XM_011509513.4:c.2925A>G, XM_011509513.4:c.2925A>T, XM_011509513.3:c.2925A>G, XM_011509513.3:c.2925A>T, XM_011509513.2:c.3174A>G, XM_011509513.2:c.3174A>T, XM_011509513.1:c.2925A>G, XM_011509513.1:c.2925A>T, XM_017001243.3:c.2433A>G, XM_017001243.3:c.2433A>T, XM_017001243.2:c.2433A>G, XM_017001243.2:c.2433A>T, XM_017001243.1:c.2433A>G, XM_017001243.1:c.2433A>T, NM_001324062.2:c.2925A>G, NM_001324062.2:c.2925A>T, NM_001324062.1:c.2925A>G, NM_001324062.1:c.2925A>T, NM_001324064.2:c.2433A>G, NM_001324064.2:c.2433A>T, NM_001324064.1:c.2433A>G, NM_001324064.1:c.2433A>T, NM_001324063.2:c.2925A>G, NM_001324063.2:c.2925A>T, NM_001324063.1:c.2925A>G, NM_001324063.1:c.2925A>T

Select item 14896433653.

rs1489643365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:222665438 (GRCh38)
1:222838780 (GRCh37)
Canonical SPDI:: NC_000001.11:222665437:T:C,NC_000001.11:222665437:T:G
Gene:: MIA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000001.11:g.222665438T>C, NC_000001.11:g.222665438T>G, NC_000001.10:g.222838780T>C, NC_000001.10:g.222838780T>G, XM_006711304.5:c.5438T>C, XM_006711304.5:c.5438T>G, XM_006711304.4:c.5438T>C, XM_006711304.4:c.5438T>G, XM_006711304.3:c.5687T>C, XM_006711304.3:c.5687T>G, XM_006711304.2:c.5438T>C, XM_006711304.2:c.5438T>G, XM_006711304.1:c.5438T>C, XM_006711304.1:c.5438T>G, NM_198551.4:c.5543T>C, NM_198551.4:c.5543T>G, NM_198551.3:c.5543T>C, NM_198551.3:c.5543T>G, NM_198551.2:c.5543T>C, NM_198551.2:c.5543T>G, XM_017001243.3:c.5123T>C, XM_017001243.3:c.5123T>G, XM_017001243.2:c.5123T>C, XM_017001243.2:c.5123T>G, XM_017001243.1:c.5123T>C, XM_017001243.1:c.5123T>G, NM_001324062.2:c.5615T>C, NM_001324062.2:c.5615T>G, NM_001324062.1:c.5615T>C, NM_001324062.1:c.5615T>G, NM_001324064.2:c.5051T>C, NM_001324064.2:c.5051T>G, NM_001324064.1:c.5051T>C, NM_001324064.1:c.5051T>G, NM_001324063.2:c.5366T>C, NM_001324063.2:c.5366T>G, NM_001324063.1:c.5366T>C, NM_001324063.1:c.5366T>G, NM_001324065.2:c.2249T>C, NM_001324065.2:c.2249T>G, NM_001324065.1:c.2249T>C, NM_001324065.1:c.2249T>G, NM_001300867.2:c.2177T>C, NM_001300867.2:c.2177T>G, NM_001300867.1:c.2177T>C, NM_001300867.1:c.2177T>G, XM_047419783.1:c.2000T>C, XM_047419783.1:c.2000T>G, XP_006711367.3:p.Leu1813Pro, XP_006711367.3:p.Leu1813Arg, NP_940953.2:p.Leu1848Pro, NP_940953.2:p.Leu1848Arg, XP_016856732.1:p.Leu1708Pro, XP_016856732.1:p.Leu1708Arg, NP_001310991.1:p.Leu1872Pro, NP_001310991.1:p.Leu1872Arg, NP_001310993.1:p.Leu1684Pro, NP_001310993.1:p.Leu1684Arg, NP_001310992.1:p.Leu1789Pro, NP_001310992.1:p.Leu1789Arg, NP_001310994.1:p.Leu750Pro, NP_001310994.1:p.Leu750Arg, NP_001287796.1:p.Leu726Pro, NP_001287796.1:p.Leu726Arg, XP_047275739.1:p.Leu667Pro, XP_047275739.1:p.Leu667Arg

Select item 14895559984.

rs1489555998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222662286 (GRCh38)
1:222835628 (GRCh37)
Canonical SPDI:: NC_000001.11:222662285:G:A
Gene:: MIA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.222662286G>A, NC_000001.10:g.222835628G>A, XM_006711304.5:c.5039G>A, XM_006711304.4:c.5039G>A, XM_006711304.3:c.5288G>A, XM_006711304.2:c.5039G>A, XM_006711304.1:c.5039G>A, NM_198551.4:c.5216G>A, NM_198551.3:c.5216G>A, NM_198551.2:c.5216G>A, XM_017001243.3:c.4724G>A, XM_017001243.2:c.4724G>A, XM_017001243.1:c.4724G>A, NM_001324062.2:c.5216G>A, NM_001324062.1:c.5216G>A, NM_001324064.2:c.4724G>A, NM_001324064.1:c.4724G>A, NM_001324063.2:c.5039G>A, NM_001324063.1:c.5039G>A, NM_001324065.2:c.1850G>A, NM_001324065.1:c.1850G>A, NM_001300867.2:c.1850G>A, NM_001300867.1:c.1850G>A, XM_047419783.1:c.1673G>A, XP_006711367.3:p.Ser1680Asn, NP_940953.2:p.Ser1739Asn, XP_016856732.1:p.Ser1575Asn, NP_001310991.1:p.Ser1739Asn, NP_001310993.1:p.Ser1575Asn, NP_001310992.1:p.Ser1680Asn, NP_001310994.1:p.Ser617Asn, NP_001287796.1:p.Ser617Asn, XP_047275739.1:p.Ser558Asn

Select item 14894190985.

rs1489419098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:222654687 (GRCh38)
1:222828029 (GRCh37)
Canonical SPDI:: NC_000001.11:222654686:T:A,NC_000001.11:222654686:T:C
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222654687T>A, NC_000001.11:g.222654687T>C, NC_000001.10:g.222828029T>A, NC_000001.10:g.222828029T>C, XM_006711304.5:c.4324T>A, XM_006711304.5:c.4324T>C, XM_006711304.4:c.4324T>A, XM_006711304.4:c.4324T>C, XM_006711304.3:c.4573T>A, XM_006711304.3:c.4573T>C, XM_006711304.2:c.4324T>A, XM_006711304.2:c.4324T>C, XM_006711304.1:c.4324T>A, XM_006711304.1:c.4324T>C, NM_198551.4:c.4501T>A, NM_198551.4:c.4501T>C, NM_198551.3:c.4501T>A, NM_198551.3:c.4501T>C, NM_198551.2:c.4501T>A, NM_198551.2:c.4501T>C, XM_011509513.4:c.4501T>A, XM_011509513.4:c.4501T>C, XM_011509513.3:c.4501T>A, XM_011509513.3:c.4501T>C, XM_011509513.2:c.4750T>A, XM_011509513.2:c.4750T>C, XM_011509513.1:c.4501T>A, XM_011509513.1:c.4501T>C, XM_017001243.3:c.4009T>A, XM_017001243.3:c.4009T>C, XM_017001243.2:c.4009T>A, XM_017001243.2:c.4009T>C, XM_017001243.1:c.4009T>A, XM_017001243.1:c.4009T>C, NM_001324062.2:c.4501T>A, NM_001324062.2:c.4501T>C, NM_001324062.1:c.4501T>A, NM_001324062.1:c.4501T>C, NM_001324064.2:c.4009T>A, NM_001324064.2:c.4009T>C, NM_001324064.1:c.4009T>A, NM_001324064.1:c.4009T>C, NM_001324063.2:c.4324T>A, NM_001324063.2:c.4324T>C, NM_001324063.1:c.4324T>A, NM_001324063.1:c.4324T>C, NM_001324065.2:c.1135T>A, NM_001324065.2:c.1135T>C, NM_001324065.1:c.1135T>A, NM_001324065.1:c.1135T>C, NM_001300867.2:c.1135T>A, NM_001300867.2:c.1135T>C, NM_001300867.1:c.1135T>A, NM_001300867.1:c.1135T>C, XM_047419783.1:c.958T>A, XM_047419783.1:c.958T>C, XP_006711367.3:p.Ser1442Thr, XP_006711367.3:p.Ser1442Pro, NP_940953.2:p.Ser1501Thr, NP_940953.2:p.Ser1501Pro, XP_011507815.3:p.Ser1501Thr, XP_011507815.3:p.Ser1501Pro, XP_016856732.1:p.Ser1337Thr, XP_016856732.1:p.Ser1337Pro, NP_001310991.1:p.Ser1501Thr, NP_001310991.1:p.Ser1501Pro, NP_001310993.1:p.Ser1337Thr, NP_001310993.1:p.Ser1337Pro, NP_001310992.1:p.Ser1442Thr, NP_001310992.1:p.Ser1442Pro, NP_001310994.1:p.Ser379Thr, NP_001310994.1:p.Ser379Pro, NP_001287796.1:p.Ser379Thr, NP_001287796.1:p.Ser379Pro, XP_047275739.1:p.Ser320Thr, XP_047275739.1:p.Ser320Pro

Select item 14892065896.

rs1489206589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222630131 (GRCh38)
1:222803473 (GRCh37)
Canonical SPDI:: NC_000001.11:222630130:A:G
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.222630131A>G, NC_000001.10:g.222803473A>G, XM_006711304.5:c.2911A>G, XM_006711304.4:c.2911A>G, XM_006711304.3:c.3160A>G, XM_006711304.2:c.2911A>G, XM_006711304.1:c.2911A>G, NM_198551.4:c.2911A>G, NM_198551.3:c.2911A>G, NM_198551.2:c.2911A>G, XM_011509513.4:c.2911A>G, XM_011509513.3:c.2911A>G, XM_011509513.2:c.3160A>G, XM_011509513.1:c.2911A>G, XM_017001243.3:c.2419A>G, XM_017001243.2:c.2419A>G, XM_017001243.1:c.2419A>G, NM_001324062.2:c.2911A>G, NM_001324062.1:c.2911A>G, NM_001324064.2:c.2419A>G, NM_001324064.1:c.2419A>G, NM_001324063.2:c.2911A>G, NM_001324063.1:c.2911A>G, XP_006711367.3:p.Met971Val, NP_940953.2:p.Met971Val, XP_011507815.3:p.Met971Val, XP_016856732.1:p.Met807Val, NP_001310991.1:p.Met971Val, NP_001310993.1:p.Met807Val, NP_001310992.1:p.Met971Val

Select item 14890776517.

rs1489077651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:222618138 (GRCh38)
1:222791480 (GRCh37)
Canonical SPDI:: NC_000001.11:222618137:T:G
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222618138T>G, NC_000001.10:g.222791480T>G, XM_006711304.5:c.28T>G, XM_006711304.4:c.28T>G, XM_006711304.3:c.277T>G, XM_006711304.2:c.28T>G, XM_006711304.1:c.28T>G, NM_198551.4:c.28T>G, NM_198551.3:c.28T>G, NM_198551.2:c.28T>G, XM_011509513.4:c.28T>G, XM_011509513.3:c.28T>G, XM_011509513.2:c.277T>G, XM_011509513.1:c.28T>G, NM_001324062.2:c.28T>G, NM_001324062.1:c.28T>G, NM_001324064.2:c.-510T>G, NM_001324064.1:c.-510T>G, NM_001324063.2:c.28T>G, NM_001324063.1:c.28T>G, XP_006711367.3:p.Trp10Gly, NP_940953.2:p.Trp10Gly, XP_011507815.3:p.Trp10Gly, NP_001310991.1:p.Trp10Gly, NP_001310992.1:p.Trp10Gly

Select item 14887949748.

rs1488794974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222628560 (GRCh38)
1:222801902 (GRCh37)
Canonical SPDI:: NC_000001.11:222628559:T:C
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222628560T>C, NC_000001.10:g.222801902T>C, XM_006711304.5:c.1340T>C, XM_006711304.4:c.1340T>C, XM_006711304.3:c.1589T>C, XM_006711304.2:c.1340T>C, XM_006711304.1:c.1340T>C, NM_198551.4:c.1340T>C, NM_198551.3:c.1340T>C, NM_198551.2:c.1340T>C, XM_011509513.4:c.1340T>C, XM_011509513.3:c.1340T>C, XM_011509513.2:c.1589T>C, XM_011509513.1:c.1340T>C, XM_017001243.3:c.848T>C, XM_017001243.2:c.848T>C, XM_017001243.1:c.848T>C, NM_001324062.2:c.1340T>C, NM_001324062.1:c.1340T>C, NM_001324064.2:c.848T>C, NM_001324064.1:c.848T>C, NM_001324063.2:c.1340T>C, NM_001324063.1:c.1340T>C, XP_006711367.3:p.Val447Ala, NP_940953.2:p.Val447Ala, XP_011507815.3:p.Val447Ala, XP_016856732.1:p.Val283Ala, NP_001310991.1:p.Val447Ala, NP_001310993.1:p.Val283Ala, NP_001310992.1:p.Val447Ala

Select item 14875132199.

rs1487513219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222650331 (GRCh38)
1:222823673 (GRCh37)
Canonical SPDI:: NC_000001.11:222650330:T:C
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222650331T>C, NC_000001.10:g.222823673T>C, XM_006711304.5:c.3671T>C, XM_006711304.4:c.3671T>C, XM_006711304.3:c.3920T>C, XM_006711304.2:c.3671T>C, XM_006711304.1:c.3671T>C, NM_198551.4:c.3671T>C, NM_198551.3:c.3671T>C, NM_198551.2:c.3671T>C, XM_011509513.4:c.3671T>C, XM_011509513.3:c.3671T>C, XM_011509513.2:c.3920T>C, XM_011509513.1:c.3671T>C, XM_017001243.3:c.3179T>C, XM_017001243.2:c.3179T>C, XM_017001243.1:c.3179T>C, NM_001324062.2:c.3671T>C, NM_001324062.1:c.3671T>C, NM_001324064.2:c.3179T>C, NM_001324064.1:c.3179T>C, NM_001324063.2:c.3671T>C, NM_001324063.1:c.3671T>C, NM_001324065.2:c.305T>C, NM_001324065.1:c.305T>C, NM_001300867.2:c.305T>C, NM_001300867.1:c.305T>C, XM_047419783.1:c.305T>C, XP_006711367.3:p.Met1224Thr, NP_940953.2:p.Met1224Thr, XP_011507815.3:p.Met1224Thr, XP_016856732.1:p.Met1060Thr, NP_001310991.1:p.Met1224Thr, NP_001310993.1:p.Met1060Thr, NP_001310992.1:p.Met1224Thr, NP_001310994.1:p.Met102Thr, NP_001287796.1:p.Met102Thr, XP_047275739.1:p.Met102Thr

Select item 148751195510.

rs1487511955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:222665512 (GRCh38)
1:222838854 (GRCh37)
Canonical SPDI:: NC_000001.11:222665511:C:G,NC_000001.11:222665511:C:T
Gene:: MIA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222665512C>G, NC_000001.11:g.222665512C>T, NC_000001.10:g.222838854C>G, NC_000001.10:g.222838854C>T, XM_006711304.5:c.5512C>G, XM_006711304.5:c.5512C>T, XM_006711304.4:c.5512C>G, XM_006711304.4:c.5512C>T, XM_006711304.3:c.5761C>G, XM_006711304.3:c.5761C>T, XM_006711304.2:c.5512C>G, XM_006711304.2:c.5512C>T, XM_006711304.1:c.5512C>G, XM_006711304.1:c.5512C>T, NM_198551.4:c.5617C>G, NM_198551.4:c.5617C>T, NM_198551.3:c.5617C>G, NM_198551.3:c.5617C>T, NM_198551.2:c.5617C>G, NM_198551.2:c.5617C>T, XM_017001243.3:c.5197C>G, XM_017001243.3:c.5197C>T, XM_017001243.2:c.5197C>G, XM_017001243.2:c.5197C>T, XM_017001243.1:c.5197C>G, XM_017001243.1:c.5197C>T, NM_001324062.2:c.5689C>G, NM_001324062.2:c.5689C>T, NM_001324062.1:c.5689C>G, NM_001324062.1:c.5689C>T, NM_001324064.2:c.5125C>G, NM_001324064.2:c.5125C>T, NM_001324064.1:c.5125C>G, NM_001324064.1:c.5125C>T, NM_001324063.2:c.5440C>G, NM_001324063.2:c.5440C>T, NM_001324063.1:c.5440C>G, NM_001324063.1:c.5440C>T, NM_001324065.2:c.2323C>G, NM_001324065.2:c.2323C>T, NM_001324065.1:c.2323C>G, NM_001324065.1:c.2323C>T, NM_001300867.2:c.2251C>G, NM_001300867.2:c.2251C>T, NM_001300867.1:c.2251C>G, NM_001300867.1:c.2251C>T, XM_047419783.1:c.2074C>G, XM_047419783.1:c.2074C>T, XP_006711367.3:p.Pro1838Ala, XP_006711367.3:p.Pro1838Ser, NP_940953.2:p.Pro1873Ala, NP_940953.2:p.Pro1873Ser, XP_016856732.1:p.Pro1733Ala, XP_016856732.1:p.Pro1733Ser, NP_001310991.1:p.Pro1897Ala, NP_001310991.1:p.Pro1897Ser, NP_001310993.1:p.Pro1709Ala, NP_001310993.1:p.Pro1709Ser, NP_001310992.1:p.Pro1814Ala, NP_001310992.1:p.Pro1814Ser, NP_001310994.1:p.Pro775Ala, NP_001310994.1:p.Pro775Ser, NP_001287796.1:p.Pro751Ala, NP_001287796.1:p.Pro751Ser, XP_047275739.1:p.Pro692Ala, XP_047275739.1:p.Pro692Ser

Select item 148726564811.

rs1487265648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:222628622 (GRCh38)
1:222801964 (GRCh37)
Canonical SPDI:: NC_000001.11:222628621:G:A,NC_000001.11:222628621:G:C
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.222628622G>A, NC_000001.11:g.222628622G>C, NC_000001.10:g.222801964G>A, NC_000001.10:g.222801964G>C, XM_006711304.5:c.1402G>A, XM_006711304.5:c.1402G>C, XM_006711304.4:c.1402G>A, XM_006711304.4:c.1402G>C, XM_006711304.3:c.1651G>A, XM_006711304.3:c.1651G>C, XM_006711304.2:c.1402G>A, XM_006711304.2:c.1402G>C, XM_006711304.1:c.1402G>A, XM_006711304.1:c.1402G>C, NM_198551.4:c.1402G>A, NM_198551.4:c.1402G>C, NM_198551.3:c.1402G>A, NM_198551.3:c.1402G>C, NM_198551.2:c.1402G>A, NM_198551.2:c.1402G>C, XM_011509513.4:c.1402G>A, XM_011509513.4:c.1402G>C, XM_011509513.3:c.1402G>A, XM_011509513.3:c.1402G>C, XM_011509513.2:c.1651G>A, XM_011509513.2:c.1651G>C, XM_011509513.1:c.1402G>A, XM_011509513.1:c.1402G>C, XM_017001243.3:c.910G>A, XM_017001243.3:c.910G>C, XM_017001243.2:c.910G>A, XM_017001243.2:c.910G>C, XM_017001243.1:c.910G>A, XM_017001243.1:c.910G>C, NM_001324062.2:c.1402G>A, NM_001324062.2:c.1402G>C, NM_001324062.1:c.1402G>A, NM_001324062.1:c.1402G>C, NM_001324064.2:c.910G>A, NM_001324064.2:c.910G>C, NM_001324064.1:c.910G>A, NM_001324064.1:c.910G>C, NM_001324063.2:c.1402G>A, NM_001324063.2:c.1402G>C, NM_001324063.1:c.1402G>A, NM_001324063.1:c.1402G>C, XP_006711367.3:p.Gly468Arg, XP_006711367.3:p.Gly468Arg, NP_940953.2:p.Gly468Arg, NP_940953.2:p.Gly468Arg, XP_011507815.3:p.Gly468Arg, XP_011507815.3:p.Gly468Arg, XP_016856732.1:p.Gly304Arg, XP_016856732.1:p.Gly304Arg, NP_001310991.1:p.Gly468Arg, NP_001310991.1:p.Gly468Arg, NP_001310993.1:p.Gly304Arg, NP_001310993.1:p.Gly304Arg, NP_001310992.1:p.Gly468Arg, NP_001310992.1:p.Gly468Arg

Select item 148695523812.

rs1486955238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222628823 (GRCh38)
1:222802165 (GRCh37)
Canonical SPDI:: NC_000001.11:222628822:A:G
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222628823A>G, NC_000001.10:g.222802165A>G, XM_006711304.5:c.1603A>G, XM_006711304.4:c.1603A>G, XM_006711304.3:c.1852A>G, XM_006711304.2:c.1603A>G, XM_006711304.1:c.1603A>G, NM_198551.4:c.1603A>G, NM_198551.3:c.1603A>G, NM_198551.2:c.1603A>G, XM_011509513.4:c.1603A>G, XM_011509513.3:c.1603A>G, XM_011509513.2:c.1852A>G, XM_011509513.1:c.1603A>G, XM_017001243.3:c.1111A>G, XM_017001243.2:c.1111A>G, XM_017001243.1:c.1111A>G, NM_001324062.2:c.1603A>G, NM_001324062.1:c.1603A>G, NM_001324064.2:c.1111A>G, NM_001324064.1:c.1111A>G, NM_001324063.2:c.1603A>G, NM_001324063.1:c.1603A>G, XP_006711367.3:p.Ile535Val, NP_940953.2:p.Ile535Val, XP_011507815.3:p.Ile535Val, XP_016856732.1:p.Ile371Val, NP_001310991.1:p.Ile535Val, NP_001310993.1:p.Ile371Val, NP_001310992.1:p.Ile535Val

Select item 148683345913.

rs1486833459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222650680 (GRCh38)
1:222824022 (GRCh37)
Canonical SPDI:: NC_000001.11:222650679:T:C
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222650680T>C, NC_000001.10:g.222824022T>C, XM_006711304.5:c.3767T>C, XM_006711304.4:c.3767T>C, XM_006711304.3:c.4016T>C, XM_006711304.2:c.3767T>C, XM_006711304.1:c.3767T>C, NM_198551.4:c.3767T>C, NM_198551.3:c.3767T>C, NM_198551.2:c.3767T>C, XM_011509513.4:c.3767T>C, XM_011509513.3:c.3767T>C, XM_011509513.2:c.4016T>C, XM_011509513.1:c.3767T>C, XM_017001243.3:c.3275T>C, XM_017001243.2:c.3275T>C, XM_017001243.1:c.3275T>C, NM_001324062.2:c.3767T>C, NM_001324062.1:c.3767T>C, NM_001324064.2:c.3275T>C, NM_001324064.1:c.3275T>C, NM_001324063.2:c.3767T>C, NM_001324063.1:c.3767T>C, NM_001324065.2:c.401T>C, NM_001324065.1:c.401T>C, NM_001300867.2:c.401T>C, NM_001300867.1:c.401T>C, XM_047419783.1:c.401T>C, XP_006711367.3:p.Met1256Thr, NP_940953.2:p.Met1256Thr, XP_011507815.3:p.Met1256Thr, XP_016856732.1:p.Met1092Thr, NP_001310991.1:p.Met1256Thr, NP_001310993.1:p.Met1092Thr, NP_001310992.1:p.Met1256Thr, NP_001310994.1:p.Met134Thr, NP_001287796.1:p.Met134Thr, XP_047275739.1:p.Met134Thr

Select item 148573704914.

rs1485737049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222627952 (GRCh38)
1:222801294 (GRCh37)
Canonical SPDI:: NC_000001.11:222627951:A:G
Gene:: MIA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.222627952A>G, NC_000001.10:g.222801294A>G, XM_006711304.5:c.732A>G, XM_006711304.4:c.732A>G, XM_006711304.3:c.981A>G, XM_006711304.2:c.732A>G, XM_006711304.1:c.732A>G, NM_198551.4:c.732A>G, NM_198551.3:c.732A>G, NM_198551.2:c.732A>G, XM_011509513.4:c.732A>G, XM_011509513.3:c.732A>G, XM_011509513.2:c.981A>G, XM_011509513.1:c.732A>G, XM_017001243.3:c.240A>G, XM_017001243.2:c.240A>G, XM_017001243.1:c.240A>G, NM_001324062.2:c.732A>G, NM_001324062.1:c.732A>G, NM_001324064.2:c.240A>G, NM_001324064.1:c.240A>G, NM_001324063.2:c.732A>G, NM_001324063.1:c.732A>G

Select item 148447796715.

rs1484477967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:222629473 (GRCh38)
1:222802815 (GRCh37)
Canonical SPDI:: NC_000001.11:222629472:C:A
Gene:: MIA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222629473C>A, NC_000001.10:g.222802815C>A, XM_006711304.5:c.2253C>A, XM_006711304.4:c.2253C>A, XM_006711304.3:c.2502C>A, XM_006711304.2:c.2253C>A, XM_006711304.1:c.2253C>A, NM_198551.4:c.2253C>A, NM_198551.3:c.2253C>A, NM_198551.2:c.2253C>A, XM_011509513.4:c.2253C>A, XM_011509513.3:c.2253C>A, XM_011509513.2:c.2502C>A, XM_011509513.1:c.2253C>A, XM_017001243.3:c.1761C>A, XM_017001243.2:c.1761C>A, XM_017001243.1:c.1761C>A, NM_001324062.2:c.2253C>A, NM_001324062.1:c.2253C>A, NM_001324064.2:c.1761C>A, NM_001324064.1:c.1761C>A, NM_001324063.2:c.2253C>A, NM_001324063.1:c.2253C>A

Select item 148442284316.

rs1484422843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222630332 (GRCh38)
1:222803674 (GRCh37)
Canonical SPDI:: NC_000001.11:222630331:A:G
Gene:: MIA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222630332A>G, NC_000001.10:g.222803674A>G, XM_006711304.5:c.3112A>G, XM_006711304.4:c.3112A>G, XM_006711304.3:c.3361A>G, XM_006711304.2:c.3112A>G, XM_006711304.1:c.3112A>G, NM_198551.4:c.3112A>G, NM_198551.3:c.3112A>G, NM_198551.2:c.3112A>G, XM_011509513.4:c.3112A>G, XM_011509513.3:c.3112A>G, XM_011509513.2:c.3361A>G, XM_011509513.1:c.3112A>G, XM_017001243.3:c.2620A>G, XM_017001243.2:c.2620A>G, XM_017001243.1:c.2620A>G, NM_001324062.2:c.3112A>G, NM_001324062.1:c.3112A>G, NM_001324064.2:c.2620A>G, NM_001324064.1:c.2620A>G, NM_001324063.2:c.3112A>G, NM_001324063.1:c.3112A>G, XP_006711367.3:p.Thr1038Ala, NP_940953.2:p.Thr1038Ala, XP_011507815.3:p.Thr1038Ala, XP_016856732.1:p.Thr874Ala, NP_001310991.1:p.Thr1038Ala, NP_001310993.1:p.Thr874Ala, NP_001310992.1:p.Thr1038Ala

Select item 148397363717.

rs1483973637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222629806 (GRCh38)
1:222803148 (GRCh37)
Canonical SPDI:: NC_000001.11:222629805:G:A
Gene:: MIA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222629806G>A, NC_000001.10:g.222803148G>A, XM_006711304.5:c.2586G>A, XM_006711304.4:c.2586G>A, XM_006711304.3:c.2835G>A, XM_006711304.2:c.2586G>A, XM_006711304.1:c.2586G>A, NM_198551.4:c.2586G>A, NM_198551.3:c.2586G>A, NM_198551.2:c.2586G>A, XM_011509513.4:c.2586G>A, XM_011509513.3:c.2586G>A, XM_011509513.2:c.2835G>A, XM_011509513.1:c.2586G>A, XM_017001243.3:c.2094G>A, XM_017001243.2:c.2094G>A, XM_017001243.1:c.2094G>A, NM_001324062.2:c.2586G>A, NM_001324062.1:c.2586G>A, NM_001324064.2:c.2094G>A, NM_001324064.1:c.2094G>A, NM_001324063.2:c.2586G>A, NM_001324063.1:c.2586G>A

Select item 148391962718.

rs1483919627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222632312 (GRCh38)
1:222805654 (GRCh37)
Canonical SPDI:: NC_000001.11:222632311:A:G
Gene:: MIA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222632312A>G, NC_000001.10:g.222805654A>G, XM_006711304.5:c.3317A>G, XM_006711304.4:c.3317A>G, XM_006711304.3:c.3566A>G, XM_006711304.2:c.3317A>G, XM_006711304.1:c.3317A>G, NM_198551.4:c.3317A>G, NM_198551.3:c.3317A>G, NM_198551.2:c.3317A>G, XM_011509513.4:c.3317A>G, XM_011509513.3:c.3317A>G, XM_011509513.2:c.3566A>G, XM_011509513.1:c.3317A>G, XM_017001243.3:c.2825A>G, XM_017001243.2:c.2825A>G, XM_017001243.1:c.2825A>G, NM_001324062.2:c.3317A>G, NM_001324062.1:c.3317A>G, NM_001324064.2:c.2825A>G, NM_001324064.1:c.2825A>G, NM_001324063.2:c.3317A>G, NM_001324063.1:c.3317A>G, XP_006711367.3:p.Lys1106Arg, NP_940953.2:p.Lys1106Arg, XP_011507815.3:p.Lys1106Arg, XP_016856732.1:p.Lys942Arg, NP_001310991.1:p.Lys1106Arg, NP_001310993.1:p.Lys942Arg, NP_001310992.1:p.Lys1106Arg

Select item 148361978419.

rs1483619784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222630255 (GRCh38)
1:222803597 (GRCh37)
Canonical SPDI:: NC_000001.11:222630254:T:C
Gene:: MIA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222630255T>C, NC_000001.10:g.222803597T>C, XM_006711304.5:c.3035T>C, XM_006711304.4:c.3035T>C, XM_006711304.3:c.3284T>C, XM_006711304.2:c.3035T>C, XM_006711304.1:c.3035T>C, NM_198551.4:c.3035T>C, NM_198551.3:c.3035T>C, NM_198551.2:c.3035T>C, XM_011509513.4:c.3035T>C, XM_011509513.3:c.3035T>C, XM_011509513.2:c.3284T>C, XM_011509513.1:c.3035T>C, XM_017001243.3:c.2543T>C, XM_017001243.2:c.2543T>C, XM_017001243.1:c.2543T>C, NM_001324062.2:c.3035T>C, NM_001324062.1:c.3035T>C, NM_001324064.2:c.2543T>C, NM_001324064.1:c.2543T>C, NM_001324063.2:c.3035T>C, NM_001324063.1:c.3035T>C, XP_006711367.3:p.Phe1012Ser, NP_940953.2:p.Phe1012Ser, XP_011507815.3:p.Phe1012Ser, XP_016856732.1:p.Phe848Ser, NP_001310991.1:p.Phe1012Ser, NP_001310993.1:p.Phe848Ser, NP_001310992.1:p.Phe1012Ser

Select item 148258349220.

rs1482583492 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 1:222652320 (GRCh38)
1:222825662 (GRCh37)
Canonical SPDI:: NC_000001.11:222652314:AAGAAGAA:AAGAA
Gene:: MIA3 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.222652317GAA[1], NC_000001.10:g.222825659GAA[1], NM_198551.4:c.4071GAA[1], NM_198551.3:c.4071GAA[1], NM_198551.2:c.4071GAA[1], XM_011509513.4:c.4071GAA[1], XM_011509513.3:c.4071GAA[1], XM_011509513.2:c.4320GAA[1], XM_011509513.1:c.4071GAA[1], XM_017001243.3:c.3579GAA[1], XM_017001243.2:c.3579GAA[1], XM_017001243.1:c.3579GAA[1], NM_001324062.2:c.4071GAA[1], NM_001324062.1:c.4071GAA[1], NM_001324064.2:c.3579GAA[1], NM_001324064.1:c.3579GAA[1], NM_001324065.2:c.705GAA[1], NM_001324065.1:c.705GAA[1], NM_001300867.2:c.705GAA[1], NM_001300867.1:c.705GAA[1], NP_940953.2:p.Lys1360del, XP_011507815.3:p.Lys1360del, XP_016856732.1:p.Lys1196del, NP_001310991.1:p.Lys1360del, NP_001310993.1:p.Lys1196del, NP_001310994.1:p.Lys238del, NP_001287796.1:p.Lys238del

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