SNP Links for Protein (Select 385251407) - SNP

Links from Protein

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Select item 14901807361.

rs1490180736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:95977955 (GRCh38)
12:96371733 (GRCh37)
Canonical SPDI:: NC_000012.12:95977954:T:A
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95977955T>A, NC_000012.11:g.96371733T>A, NG_008180.1:g.23339A>T, NM_002108.4:c.1643A>T, NM_002108.3:c.1643A>T, NM_001258333.2:c.1019A>T, NM_001258333.1:c.1019A>T, NM_001258334.2:c.1643A>T, NM_001258334.1:c.1643A>T, XM_011538249.3:c.791A>T, XM_011538249.2:c.791A>T, XM_011538249.1:c.791A>T, XM_017019246.1:c.713A>T, NP_002099.1:p.His548Leu, NP_001245262.1:p.His340Leu, NP_001245263.1:p.His548Leu, XP_011536551.1:p.His264Leu, XP_016874735.1:p.His238Leu

Select item 14878096022.

rs1487809602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95987186 (GRCh38)
12:96380964 (GRCh37)
Canonical SPDI:: NC_000012.12:95987185:A:G
Gene:: HAL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_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_000012.12:g.95987186A>G, NC_000012.11:g.96380964A>G, NG_008180.1:g.14108T>C, NM_002108.4:c.932T>C, NM_002108.3:c.932T>C, NM_001258333.2:c.308T>C, NM_001258333.1:c.308T>C, NM_001258334.2:c.932T>C, NM_001258334.1:c.932T>C, XM_011538249.3:c.80T>C, XM_011538249.2:c.80T>C, XM_011538249.1:c.80T>C, XM_017019246.1:c.2T>C, NP_002099.1:p.Met311Thr, NP_001245262.1:p.Met103Thr, NP_001245263.1:p.Met311Thr, XP_011536551.1:p.Met27Thr, XP_016874735.1:p.Met1Thr

Select item 14840400033.

rs1484040003 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGAAA>- [Show Flanks]
Chromosome:: 12:95986111 (GRCh38)
12:96379889 (GRCh37)
Canonical SPDI:: NC_000012.12:95986103:ACCGAAACCGAAA:ACCGAAA
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: ACCGAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95986105CCGAAA[1], NC_000012.11:g.96379883CCGAAA[1], NG_008180.1:g.15179TTCGGT[1], NM_002108.4:c.1097TTCGGT[1], NM_002108.3:c.1097TTCGGT[1], NM_001258333.2:c.473TTCGGT[1], NM_001258333.1:c.473TTCGGT[1], NM_001258334.2:c.1097TTCGGT[1], NM_001258334.1:c.1097TTCGGT[1], XM_011538249.3:c.245TTCGGT[1], XM_011538249.2:c.245TTCGGT[1], XM_011538249.1:c.245TTCGGT[1], XM_017019246.1:c.167TTCGGT[1], NP_002099.1:p.366FR[1], NP_001245262.1:p.158FR[1], NP_001245263.1:p.366FR[1], XP_011536551.1:p.82FR[1], XP_016874735.1:p.56FR[1]

Select item 14829398304.

rs1482939830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95990494 (GRCh38)
12:96384272 (GRCh37)
Canonical SPDI:: NC_000012.12:95990493:C:T
Gene:: HAL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95990494C>T, NC_000012.11:g.96384272C>T, NG_008180.1:g.10800G>A, NM_002108.4:c.754G>A, NM_002108.3:c.754G>A, NM_001258333.2:c.130G>A, NM_001258333.1:c.130G>A, NM_001258334.2:c.754G>A, NM_001258334.1:c.754G>A, NP_002099.1:p.Gly252Ser, NP_001245262.1:p.Gly44Ser, NP_001245263.1:p.Gly252Ser

Select item 14821209605.

rs1482120960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95985908 (GRCh38)
12:96379686 (GRCh37)
Canonical SPDI:: NC_000012.12:95985907:C:T
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.0013/6 (Estonian)
HGVS:: NC_000012.12:g.95985908C>T, NC_000012.11:g.96379686C>T, NG_008180.1:g.15386G>A, NM_002108.4:c.1206G>A, NM_002108.3:c.1206G>A, NM_001258333.2:c.582G>A, NM_001258333.1:c.582G>A, NM_001258334.2:c.1206G>A, NM_001258334.1:c.1206G>A, XM_011538249.3:c.354G>A, XM_011538249.2:c.354G>A, XM_011538249.1:c.354G>A, XM_017019246.1:c.276G>A

Select item 14799312696.

rs1479931269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95974304 (GRCh38)
12:96368082 (GRCh37)
Canonical SPDI:: NC_000012.12:95974303:A:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.95974304A>G, NC_000012.11:g.96368082A>G, NG_008180.1:g.26990T>C, NM_002108.4:c.1902T>C, NM_002108.3:c.1902T>C, NM_001258333.2:c.1278T>C, NM_001258333.1:c.1278T>C, NM_001258334.2:c.*56T>C, NM_001258334.1:c.*56T>C, XM_011538249.3:c.1050T>C, XM_011538249.2:c.1050T>C, XM_011538249.1:c.1050T>C, XM_017019246.1:c.972T>C

Select item 14776778297.

rs1477677829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95980607 (GRCh38)
12:96374385 (GRCh37)
Canonical SPDI:: NC_000012.12:95980606:C:T
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95980607C>T, NC_000012.11:g.96374385C>T, NG_008180.1:g.20687G>A, NM_002108.4:c.1468G>A, NM_002108.3:c.1468G>A, NM_001258333.2:c.844G>A, NM_001258333.1:c.844G>A, NM_001258334.2:c.1468G>A, NM_001258334.1:c.1468G>A, XM_011538249.3:c.616G>A, XM_011538249.2:c.616G>A, XM_011538249.1:c.616G>A, XM_017019246.1:c.538G>A, NP_002099.1:p.Gly490Ser, NP_001245262.1:p.Gly282Ser, NP_001245263.1:p.Gly490Ser, XP_011536551.1:p.Gly206Ser, XP_016874735.1:p.Gly180Ser

Select item 14749228018.

rs1474922801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:95974320 (GRCh38)
12:96368098 (GRCh37)
Canonical SPDI:: NC_000012.12:95974319:G:C
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.95974320G>C, NC_000012.11:g.96368098G>C, NG_008180.1:g.26974C>G, NM_002108.4:c.1886C>G, NM_002108.3:c.1886C>G, NM_001258333.2:c.1262C>G, NM_001258333.1:c.1262C>G, NM_001258334.2:c.*40C>G, NM_001258334.1:c.*40C>G, XM_011538249.3:c.1034C>G, XM_011538249.2:c.1034C>G, XM_011538249.1:c.1034C>G, XM_017019246.1:c.956C>G, NP_002099.1:p.Pro629Arg, NP_001245262.1:p.Pro421Arg, XP_011536551.1:p.Pro345Arg, XP_016874735.1:p.Pro319Arg

Select item 14730334129.

rs1473033412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:95986095 (GRCh38)
12:96379873 (GRCh37)
Canonical SPDI:: NC_000012.12:95986094:C:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.95986095C>G, NC_000012.11:g.96379873C>G, NG_008180.1:g.15199G>C, NM_002108.4:c.1117G>C, NM_002108.3:c.1117G>C, NM_001258333.2:c.493G>C, NM_001258333.1:c.493G>C, NM_001258334.2:c.1117G>C, NM_001258334.1:c.1117G>C, XM_011538249.3:c.265G>C, XM_011538249.2:c.265G>C, XM_011538249.1:c.265G>C, XM_017019246.1:c.187G>C, NP_002099.1:p.Asp373His, NP_001245262.1:p.Asp165His, NP_001245263.1:p.Asp373His, XP_011536551.1:p.Asp89His, XP_016874735.1:p.Asp63His

Select item 147058265610.

rs1470582656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:95990499 (GRCh38)
12:96384277 (GRCh37)
Canonical SPDI:: NC_000012.12:95990498:G:A,NC_000012.12:95990498:G:T
Gene:: HAL (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000012.12:g.95990499G>A, NC_000012.12:g.95990499G>T, NC_000012.11:g.96384277G>A, NC_000012.11:g.96384277G>T, NG_008180.1:g.10795C>T, NG_008180.1:g.10795C>A, NM_002108.4:c.749C>T, NM_002108.4:c.749C>A, NM_002108.3:c.749C>T, NM_002108.3:c.749C>A, NM_001258333.2:c.125C>T, NM_001258333.2:c.125C>A, NM_001258333.1:c.125C>T, NM_001258333.1:c.125C>A, NM_001258334.2:c.749C>T, NM_001258334.2:c.749C>A, NM_001258334.1:c.749C>T, NM_001258334.1:c.749C>A, NP_002099.1:p.Thr250Ile, NP_002099.1:p.Thr250Asn, NP_001245262.1:p.Thr42Ile, NP_001245262.1:p.Thr42Asn, NP_001245263.1:p.Thr250Ile, NP_001245263.1:p.Thr250Asn

Select item 147006102111.

rs1470061021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95974283 (GRCh38)
12:96368061 (GRCh37)
Canonical SPDI:: NC_000012.12:95974282:C:T
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95974283C>T, NC_000012.11:g.96368061C>T, NG_008180.1:g.27011G>A, NM_002108.4:c.1923G>A, NM_002108.3:c.1923G>A, NM_001258333.2:c.1299G>A, NM_001258333.1:c.1299G>A, NM_001258334.2:c.*77G>A, NM_001258334.1:c.*77G>A, XM_011538249.3:c.1071G>A, XM_011538249.2:c.1071G>A, XM_011538249.1:c.1071G>A, XM_017019246.1:c.993G>A

Select item 146640486912.

rs1466404869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95976475 (GRCh38)
12:96370253 (GRCh37)
Canonical SPDI:: NC_000012.12:95976474:A:G
Gene:: HAL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95976475A>G, NC_000012.11:g.96370253A>G, NG_008180.1:g.24819T>C, NM_002108.4:c.1787T>C, NM_002108.3:c.1787T>C, NM_001258333.2:c.1163T>C, NM_001258333.1:c.1163T>C, XM_011538249.3:c.935T>C, XM_011538249.2:c.935T>C, XM_011538249.1:c.935T>C, XM_017019246.1:c.857T>C, NP_002099.1:p.Met596Thr, NP_001245262.1:p.Met388Thr, XP_011536551.1:p.Met312Thr, XP_016874735.1:p.Met286Thr

Select item 146338348913.

rs1463383489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95980576 (GRCh38)
12:96374354 (GRCh37)
Canonical SPDI:: NC_000012.12:95980575:T:C
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95980576T>C, NC_000012.11:g.96374354T>C, NG_008180.1:g.20718A>G, NM_002108.4:c.1499A>G, NM_002108.3:c.1499A>G, NM_001258333.2:c.875A>G, NM_001258333.1:c.875A>G, NM_001258334.2:c.1499A>G, NM_001258334.1:c.1499A>G, XM_011538249.3:c.647A>G, XM_011538249.2:c.647A>G, XM_011538249.1:c.647A>G, XM_017019246.1:c.569A>G, NP_002099.1:p.His500Arg, NP_001245262.1:p.His292Arg, NP_001245263.1:p.His500Arg, XP_011536551.1:p.His216Arg, XP_016874735.1:p.His190Arg

Select item 146198530814.

rs1461985308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95988209 (GRCh38)
12:96381987 (GRCh37)
Canonical SPDI:: NC_000012.12:95988208:A:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_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_000012.12:g.95988209A>G, NC_000012.11:g.96381987A>G, NG_008180.1:g.13085T>C, NM_002108.4:c.887T>C, NM_002108.3:c.887T>C, NM_001258333.2:c.263T>C, NM_001258333.1:c.263T>C, NM_001258334.2:c.887T>C, NM_001258334.1:c.887T>C, XM_011538249.3:c.35T>C, XM_011538249.2:c.35T>C, XM_011538249.1:c.35T>C, XM_017019246.1:c.-44T>C, NP_002099.1:p.Ile296Thr, NP_001245262.1:p.Ile88Thr, NP_001245263.1:p.Ile296Thr, XP_011536551.1:p.Ile12Thr

Select item 146166329315.

rs1461663293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95992736 (GRCh38)
12:96386514 (GRCh37)
Canonical SPDI:: NC_000012.12:95992735:T:C
Gene:: HAL (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95992736T>C, NC_000012.11:g.96386514T>C, NG_008180.1:g.8558A>G, NM_002108.4:c.659A>G, NM_002108.3:c.659A>G, NM_001258333.2:c.35A>G, NM_001258333.1:c.35A>G, NM_001258334.2:c.659A>G, NM_001258334.1:c.659A>G, NP_002099.1:p.Lys220Arg, NP_001245262.1:p.Lys12Arg, NP_001245263.1:p.Lys220Arg

Select item 146115806916.

rs1461158069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:95978009 (GRCh38)
12:96371787 (GRCh37)
Canonical SPDI:: NC_000012.12:95978008:T:C,NC_000012.12:95978008:T:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.95978009T>C, NC_000012.12:g.95978009T>G, NC_000012.11:g.96371787T>C, NC_000012.11:g.96371787T>G, NG_008180.1:g.23285A>G, NG_008180.1:g.23285A>C, NM_002108.4:c.1589A>G, NM_002108.4:c.1589A>C, NM_002108.3:c.1589A>G, NM_002108.3:c.1589A>C, NM_001258333.2:c.965A>G, NM_001258333.2:c.965A>C, NM_001258333.1:c.965A>G, NM_001258333.1:c.965A>C, NM_001258334.2:c.1589A>G, NM_001258334.2:c.1589A>C, NM_001258334.1:c.1589A>G, NM_001258334.1:c.1589A>C, XM_011538249.3:c.737A>G, XM_011538249.3:c.737A>C, XM_011538249.2:c.737A>G, XM_011538249.2:c.737A>C, XM_011538249.1:c.737A>G, XM_011538249.1:c.737A>C, XM_017019246.1:c.659A>G, XM_017019246.1:c.659A>C, NP_002099.1:p.Asp530Gly, NP_002099.1:p.Asp530Ala, NP_001245262.1:p.Asp322Gly, NP_001245262.1:p.Asp322Ala, NP_001245263.1:p.Asp530Gly, NP_001245263.1:p.Asp530Ala, XP_011536551.1:p.Asp246Gly, XP_011536551.1:p.Asp246Ala, XP_016874735.1:p.Asp220Gly, XP_016874735.1:p.Asp220Ala

Select item 145975133017.

rs1459751330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:95980671 (GRCh38)
12:96374449 (GRCh37)
Canonical SPDI:: NC_000012.12:95980670:C:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95980671C>G, NC_000012.11:g.96374449C>G, NG_008180.1:g.20623G>C, NM_002108.4:c.1404G>C, NM_002108.3:c.1404G>C, NM_001258333.2:c.780G>C, NM_001258333.1:c.780G>C, NM_001258334.2:c.1404G>C, NM_001258334.1:c.1404G>C, XM_011538249.3:c.552G>C, XM_011538249.2:c.552G>C, XM_011538249.1:c.552G>C, XM_017019246.1:c.474G>C, NP_002099.1:p.Glu468Asp, NP_001245262.1:p.Glu260Asp, NP_001245263.1:p.Glu468Asp, XP_011536551.1:p.Glu184Asp, XP_016874735.1:p.Glu158Asp

Select item 145418483418.

rs1454184834 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 12:95983980 (GRCh38)
12:96377758 (GRCh37)
Canonical SPDI:: NC_000012.12:95983976:CACCAC:CAC
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95983977CAC[1], NC_000012.11:g.96377755CAC[1], NG_008180.1:g.17312GTG[1], NM_002108.4:c.1216GTG[1], NM_002108.3:c.1216GTG[1], NM_001258333.2:c.592GTG[1], NM_001258333.1:c.592GTG[1], NM_001258334.2:c.1216GTG[1], NM_001258334.1:c.1216GTG[1], XM_011538249.3:c.364GTG[1], XM_011538249.2:c.364GTG[1], XM_011538249.1:c.364GTG[1], XM_017019246.1:c.286GTG[1], NP_002099.1:p.Val407del, NP_001245262.1:p.Val199del, NP_001245263.1:p.Val407del, XP_011536551.1:p.Val123del, XP_016874735.1:p.Val97del

Select item 145045818519.

rs1450458185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:95980574 (GRCh38)
12:96374352 (GRCh37)
Canonical SPDI:: NC_000012.12:95980573:A:C
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95980574A>C, NC_000012.11:g.96374352A>C, NG_008180.1:g.20720T>G, NM_002108.4:c.1501T>G, NM_002108.3:c.1501T>G, NM_001258333.2:c.877T>G, NM_001258333.1:c.877T>G, NM_001258334.2:c.1501T>G, NM_001258334.1:c.1501T>G, XM_011538249.3:c.649T>G, XM_011538249.2:c.649T>G, XM_011538249.1:c.649T>G, XM_017019246.1:c.571T>G, NP_002099.1:p.Cys501Gly, NP_001245262.1:p.Cys293Gly, NP_001245263.1:p.Cys501Gly, XP_011536551.1:p.Cys217Gly, XP_016874735.1:p.Cys191Gly

Select item 144954473320.

rs1449544733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:95976701 (GRCh38)
12:96370479 (GRCh37)
Canonical SPDI:: NC_000012.12:95976700:C:G
Gene:: HAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.95976701C>G, NC_000012.11:g.96370479C>G, NG_008180.1:g.24593G>C, NM_002108.4:c.1660G>C, NM_002108.3:c.1660G>C, NM_001258333.2:c.1036G>C, NM_001258333.1:c.1036G>C, NM_001258334.2:c.1660G>C, NM_001258334.1:c.1660G>C, XM_011538249.3:c.808G>C, XM_011538249.2:c.808G>C, XM_011538249.1:c.808G>C, XM_017019246.1:c.730G>C, NP_002099.1:p.Ala554Pro, NP_001245262.1:p.Ala346Pro, NP_001245263.1:p.Ala554Pro, XP_011536551.1:p.Ala270Pro, XP_016874735.1:p.Ala244Pro

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