SNP Links for Protein (Select 533112477) - SNP

Links from Protein

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Select item 14874709331.

rs1487470933 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:48724491 (GRCh38)
17:46801853 (GRCh37)
Canonical SPDI:: NC_000017.11:48724490:G:
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00021/4 (TOMMO)
HGVS:: NC_000017.11:g.48724491del, NC_000017.10:g.46801853del, NG_033789.1:g.9259del, NM_001282275.2:c.81del, NM_001282275.1:c.81del, XM_011524747.2:c.81del, XM_011524747.1:c.81del, XM_047435918.1:c.81del, NR_024103.1:n.298del, NM_001282276.1:c.231del, XM_011524748.1:c.81del, NP_001269204.1:p.Asn28fs, XP_011523049.1:p.Asn28fs, XP_047291874.1:p.Asn28fs, NP_001269205.1:p.Asn78fs, XP_011523050.1:p.Asn28fs

Select item 14865630592.

rs1486563059 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14811208543.

rs1481120854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48724355 (GRCh38)
17:46801717 (GRCh37)
Canonical SPDI:: NC_000017.11:48724354:G:T
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48724355G>T, NC_000017.10:g.46801717G>T, NG_033789.1:g.9395C>A, NM_001282275.2:c.-56G>T, NM_001282275.1:c.-56G>T, XM_011524747.2:c.-56G>T, XM_011524747.1:c.-56G>T, XM_047435918.1:c.-56G>T, NR_024103.1:n.162G>T, NM_001282276.1:c.95G>T, XM_011524748.1:c.-56G>T, NP_001269205.1:p.Ser32Ile

Select item 14807109374.

rs1480710937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48723762 (GRCh38)
17:46801124 (GRCh37)
Canonical SPDI:: NC_000017.11:48723761:G:C
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48723762G>C, NC_000017.10:g.46801124G>C, NG_033789.1:g.9988C>G, NM_001282276.1:c.58G>C, NP_001269205.1:p.Ala20Pro

Select item 14801086605.

rs1480108660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48724572 (GRCh38)
17:46801934 (GRCh37)
Canonical SPDI:: NC_000017.11:48724571:T:C
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48724572T>C, NC_000017.10:g.46801934T>C, NG_033789.1:g.9178A>G, NM_001282275.2:c.162T>C, NM_001282275.1:c.162T>C, XM_011524747.2:c.162T>C, XM_011524747.1:c.162T>C, XM_047435918.1:c.162T>C, NR_024103.1:n.379T>C, NM_001282276.1:c.312T>C, XM_011524748.1:c.162T>C

Select item 14706798426.

rs1470679842 has merged into rs1432002535 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:48724348 (GRCh38)
17:46801710 (GRCh37)
Canonical SPDI:: NC_000017.11:48724347:AAAAAAA:AAAAAA,NC_000017.11:48724347:AAAAAAA:AAAAAAAA
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,frameshift_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.0005/8 (TOMMO)
HGVS:: NC_000017.11:g.48724354del, NC_000017.11:g.48724354dup, NC_000017.10:g.46801716del, NC_000017.10:g.46801716dup, NG_033789.1:g.9402del, NG_033789.1:g.9402dup, NM_001282275.2:c.-57del, NM_001282275.2:c.-57dup, NM_001282275.1:c.-57del, NM_001282275.1:c.-57dup, XM_011524747.2:c.-57del, XM_011524747.2:c.-57dup, XM_011524747.1:c.-57del, XM_011524747.1:c.-57dup, XM_047435918.1:c.-57del, XM_047435918.1:c.-57dup, NR_024103.1:n.161del, NR_024103.1:n.161dup, NM_001282276.1:c.94del, NM_001282276.1:c.94dup, XM_011524748.1:c.-57del, XM_011524748.1:c.-57dup, NP_001269205.1:p.Ser32fs, NP_001269205.1:p.Ser32fs

Select item 14706495767.

rs1470649576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48724363 (GRCh38)
17:46801725 (GRCh37)
Canonical SPDI:: NC_000017.11:48724362:G:T
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000022/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.48724363G>T, NC_000017.10:g.46801725G>T, NG_033789.1:g.9387C>A, NM_001282275.2:c.-48G>T, NM_001282275.1:c.-48G>T, XM_011524747.2:c.-48G>T, XM_011524747.1:c.-48G>T, XM_047435918.1:c.-48G>T, NR_024103.1:n.170G>T, NM_001282276.1:c.103G>T, XM_011524748.1:c.-48G>T, NP_001269205.1:p.Gly35Trp

Select item 14626699228.

rs1462669922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48724381 (GRCh38)
17:46801743 (GRCh37)
Canonical SPDI:: NC_000017.11:48724380:A:G
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.48724381A>G, NC_000017.10:g.46801743A>G, NG_033789.1:g.9369T>C, NM_001282275.2:c.-30A>G, NM_001282275.1:c.-30A>G, XM_011524747.2:c.-30A>G, XM_011524747.1:c.-30A>G, XM_047435918.1:c.-30A>G, NR_024103.1:n.188A>G, NM_001282276.1:c.121A>G, XM_011524748.1:c.-30A>G, NP_001269205.1:p.Asn41Asp

Select item 14553778259.

rs1455377825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48724521 (GRCh38)
17:46801883 (GRCh37)
Canonical SPDI:: NC_000017.11:48724520:G:C
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48724521G>C, NC_000017.10:g.46801883G>C, NG_033789.1:g.9229C>G, NM_001282275.2:c.111G>C, NM_001282275.1:c.111G>C, XM_011524747.2:c.111G>C, XM_011524747.1:c.111G>C, XM_047435918.1:c.111G>C, NR_024103.1:n.328G>C, NM_001282276.1:c.261G>C, XM_011524748.1:c.111G>C

Select item 145429321110.

rs1454293211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48724438 (GRCh38)
17:46801800 (GRCh37)
Canonical SPDI:: NC_000017.11:48724437:C:T
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.48724438C>T, NC_000017.10:g.46801800C>T, NG_033789.1:g.9312G>A, NM_001282275.2:c.28C>T, NM_001282275.1:c.28C>T, XM_011524747.2:c.28C>T, XM_011524747.1:c.28C>T, XM_047435918.1:c.28C>T, NR_024103.1:n.245C>T, NM_001282276.1:c.178C>T, XM_011524748.1:c.28C>T, NR_036150.1:n.38G>A, NP_001269204.1:p.Pro10Ser, XP_011523049.1:p.Pro10Ser, XP_047291874.1:p.Pro10Ser, NP_001269205.1:p.Pro60Ser, XP_011523050.1:p.Pro10Ser

Select item 145372805511.

rs1453728055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:48724367 (GRCh38)
17:46801729 (GRCh37)
Canonical SPDI:: NC_000017.11:48724366:G:A,NC_000017.11:48724366:G:T
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.48724367G>A, NC_000017.11:g.48724367G>T, NC_000017.10:g.46801729G>A, NC_000017.10:g.46801729G>T, NG_033789.1:g.9383C>T, NG_033789.1:g.9383C>A, NM_001282275.2:c.-44G>A, NM_001282275.2:c.-44G>T, NM_001282275.1:c.-44G>A, NM_001282275.1:c.-44G>T, XM_011524747.2:c.-44G>A, XM_011524747.2:c.-44G>T, XM_011524747.1:c.-44G>A, XM_011524747.1:c.-44G>T, XM_047435918.1:c.-44G>A, XM_047435918.1:c.-44G>T, NR_024103.1:n.174G>A, NR_024103.1:n.174G>T, NM_001282276.1:c.107G>A, NM_001282276.1:c.107G>T, XM_011524748.1:c.-44G>A, XM_011524748.1:c.-44G>T, NP_001269205.1:p.Gly36Glu, NP_001269205.1:p.Gly36Val

Select item 145142512112.

rs1451425121 has merged into rs369888513 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 17:48724363 (GRCh38)
17:46801725 (GRCh37)
Canonical SPDI:: NC_000017.11:48724362:GGGGGGG:GGGGGG,NC_000017.11:48724362:GGGGGGG:GGGGGGGG,NC_000017.11:48724362:GGGGGGG:GGGGGGGGG
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.0064/26 (1000Genomes)
HGVS:: NC_000017.11:g.48724369del, NC_000017.11:g.48724369dup, NC_000017.11:g.48724368_48724369dup, NC_000017.10:g.46801731del, NC_000017.10:g.46801731dup, NC_000017.10:g.46801730_46801731dup, NG_033789.1:g.9387del, NG_033789.1:g.9387dup, NG_033789.1:g.9386_9387dup, NM_001282275.2:c.-42del, NM_001282275.2:c.-42dup, NM_001282275.2:c.-43_-42dup, NM_001282275.1:c.-42del, NM_001282275.1:c.-42dup, NM_001282275.1:c.-43_-42dup, XM_011524747.2:c.-42del, XM_011524747.2:c.-42dup, XM_011524747.2:c.-43_-42dup, XM_011524747.1:c.-42del, XM_011524747.1:c.-42dup, XM_011524747.1:c.-43_-42dup, XM_047435918.1:c.-42del, XM_047435918.1:c.-42dup, XM_047435918.1:c.-43_-42dup, NR_024103.1:n.176del, NR_024103.1:n.176dup, NR_024103.1:n.175_176dup, NM_001282276.1:c.109del, NM_001282276.1:c.109dup, NM_001282276.1:c.108_109dup, XM_011524748.1:c.-42del, XM_011524748.1:c.-42dup, XM_011524748.1:c.-43_-42dup, NP_001269205.1:p.Val37fs, NP_001269205.1:p.Val37fs, NP_001269205.1:p.Val37fs

Select item 144027598213.

rs1440275982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48724676 (GRCh38)
17:46802038 (GRCh37)
Canonical SPDI:: NC_000017.11:48724675:A:G
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48724676A>G, NC_000017.10:g.46802038A>G, NG_033789.1:g.9074T>C, NM_001282275.2:c.266A>G, NM_001282275.1:c.266A>G, XM_011524747.2:c.266A>G, XM_011524747.1:c.266A>G, XM_047435918.1:c.266A>G, NR_024103.1:n.483A>G, NM_001282276.1:c.416A>G, XM_011524748.1:c.266A>G, NP_001269204.1:p.Glu89Gly, XP_011523049.1:p.Glu89Gly, XP_047291874.1:p.Glu89Gly, NP_001269205.1:p.Glu139Gly, XP_011523050.1:p.Glu89Gly

Select item 143925943414.

rs1439259434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:48724658 (GRCh38)
17:46802020 (GRCh37)
Canonical SPDI:: NC_000017.11:48724657:G:A,NC_000017.11:48724657:G:C,NC_000017.11:48724657:G:T
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.48724658G>A, NC_000017.11:g.48724658G>C, NC_000017.11:g.48724658G>T, NC_000017.10:g.46802020G>A, NC_000017.10:g.46802020G>C, NC_000017.10:g.46802020G>T, NG_033789.1:g.9092C>T, NG_033789.1:g.9092C>G, NG_033789.1:g.9092C>A, NM_001282275.2:c.248G>A, NM_001282275.2:c.248G>C, NM_001282275.2:c.248G>T, NM_001282275.1:c.248G>A, NM_001282275.1:c.248G>C, NM_001282275.1:c.248G>T, XM_011524747.2:c.248G>A, XM_011524747.2:c.248G>C, XM_011524747.2:c.248G>T, XM_011524747.1:c.248G>A, XM_011524747.1:c.248G>C, XM_011524747.1:c.248G>T, XM_047435918.1:c.248G>A, XM_047435918.1:c.248G>C, XM_047435918.1:c.248G>T, NR_024103.1:n.465G>A, NR_024103.1:n.465G>C, NR_024103.1:n.465G>T, NM_001282276.1:c.398G>A, NM_001282276.1:c.398G>C, NM_001282276.1:c.398G>T, XM_011524748.1:c.248G>A, XM_011524748.1:c.248G>C, XM_011524748.1:c.248G>T, NP_001269204.1:p.Cys83Tyr, NP_001269204.1:p.Cys83Ser, NP_001269204.1:p.Cys83Phe, XP_011523049.1:p.Cys83Tyr, XP_011523049.1:p.Cys83Ser, XP_011523049.1:p.Cys83Phe, XP_047291874.1:p.Cys83Tyr, XP_047291874.1:p.Cys83Ser, XP_047291874.1:p.Cys83Phe, NP_001269205.1:p.Cys133Tyr, NP_001269205.1:p.Cys133Ser, NP_001269205.1:p.Cys133Phe, XP_011523050.1:p.Cys83Tyr, XP_011523050.1:p.Cys83Ser, XP_011523050.1:p.Cys83Phe

Select item 143200253515.

rs1432002535 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:48724348 (GRCh38)
17:46801710 (GRCh37)
Canonical SPDI:: NC_000017.11:48724347:AAAAAAA:AAAAAA,NC_000017.11:48724347:AAAAAAA:AAAAAAAA
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,frameshift_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.0005/8 (TOMMO)
HGVS:: NC_000017.11:g.48724354del, NC_000017.11:g.48724354dup, NC_000017.10:g.46801716del, NC_000017.10:g.46801716dup, NG_033789.1:g.9402del, NG_033789.1:g.9402dup, NM_001282275.2:c.-57del, NM_001282275.2:c.-57dup, NM_001282275.1:c.-57del, NM_001282275.1:c.-57dup, XM_011524747.2:c.-57del, XM_011524747.2:c.-57dup, XM_011524747.1:c.-57del, XM_011524747.1:c.-57dup, XM_047435918.1:c.-57del, XM_047435918.1:c.-57dup, NR_024103.1:n.161del, NR_024103.1:n.161dup, NM_001282276.1:c.94del, NM_001282276.1:c.94dup, XM_011524748.1:c.-57del, XM_011524748.1:c.-57dup, NP_001269205.1:p.Ser32fs, NP_001269205.1:p.Ser32fs

Select item 142676760816.

rs1426767608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48724529 (GRCh38)
17:46801891 (GRCh37)
Canonical SPDI:: NC_000017.11:48724528:G:A
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48724529G>A, NC_000017.10:g.46801891G>A, NG_033789.1:g.9221C>T, NM_001282275.2:c.119G>A, NM_001282275.1:c.119G>A, XM_011524747.2:c.119G>A, XM_011524747.1:c.119G>A, XM_047435918.1:c.119G>A, NR_024103.1:n.336G>A, NM_001282276.1:c.269G>A, XM_011524748.1:c.119G>A, NP_001269204.1:p.Gly40Glu, XP_011523049.1:p.Gly40Glu, XP_047291874.1:p.Gly40Glu, NP_001269205.1:p.Gly90Glu, XP_011523050.1:p.Gly40Glu

Select item 141627868717.

rs1416278687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:48724631 (GRCh38)
17:46801993 (GRCh37)
Canonical SPDI:: NC_000017.11:48724630:C:G,NC_000017.11:48724630:C:T
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00018/3 (TOMMO)
G=0.00103/3 (KOREAN)
HGVS:: NC_000017.11:g.48724631C>G, NC_000017.11:g.48724631C>T, NC_000017.10:g.46801993C>G, NC_000017.10:g.46801993C>T, NG_033789.1:g.9119G>C, NG_033789.1:g.9119G>A, NM_001282275.2:c.221C>G, NM_001282275.2:c.221C>T, NM_001282275.1:c.221C>G, NM_001282275.1:c.221C>T, XM_011524747.2:c.221C>G, XM_011524747.2:c.221C>T, XM_011524747.1:c.221C>G, XM_011524747.1:c.221C>T, XM_047435918.1:c.221C>G, XM_047435918.1:c.221C>T, NR_024103.1:n.438C>G, NR_024103.1:n.438C>T, NM_001282276.1:c.371C>G, NM_001282276.1:c.371C>T, XM_011524748.1:c.221C>G, XM_011524748.1:c.221C>T, NP_001269204.1:p.Pro74Arg, NP_001269204.1:p.Pro74Leu, XP_011523049.1:p.Pro74Arg, XP_011523049.1:p.Pro74Leu, XP_047291874.1:p.Pro74Arg, XP_047291874.1:p.Pro74Leu, NP_001269205.1:p.Pro124Arg, NP_001269205.1:p.Pro124Leu, XP_011523050.1:p.Pro74Arg, XP_011523050.1:p.Pro74Leu

Select item 141417768418.

rs1414177684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48723730 (GRCh38)
17:46801092 (GRCh37)
Canonical SPDI:: NC_000017.11:48723729:G:C
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48723730G>C, NC_000017.10:g.46801092G>C, NG_033789.1:g.10020C>G, NM_001282276.1:c.26G>C, NP_001269205.1:p.Arg9Pro

Select item 141350739619.

rs1413507396 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:48724584 (GRCh38)
17:46801946 (GRCh37)
Canonical SPDI:: NC_000017.11:48724583:CCCCC:CCCC
Gene:: HOXB13 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: frameshift_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000017.11:g.48724588del, NC_000017.10:g.46801950del, NG_033789.1:g.9166del, NM_001282275.2:c.178del, NM_001282275.1:c.178del, XM_011524747.2:c.178del, XM_011524747.1:c.178del, XM_047435918.1:c.178del, NR_024103.1:n.395del, NM_001282276.1:c.328del, XM_011524748.1:c.178del, NP_001269204.1:p.His60fs, XP_011523049.1:p.His60fs, XP_047291874.1:p.His60fs, NP_001269205.1:p.His110fs, XP_011523050.1:p.His60fs

Select item 140399812120.

rs1403998121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48723738 (GRCh38)
17:46801100 (GRCh37)
Canonical SPDI:: NC_000017.11:48723737:T:C
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48723738T>C, NC_000017.10:g.46801100T>C, NG_033789.1:g.10012A>G, NM_001282276.1:c.34T>C, NP_001269205.1:p.Cys12Arg

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