Linked Data
ClinVar Variation Id:
1300948
dbSNP Id:
rs749003514
ExAC:
1:103444627 G / A
gnomAD v2:
1-103444627-G-A
gnomAD v3:
1-102979071-G-A
gnomAD v4:
1-102979071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102979071G>A , CM000663.2:g.102979071G>A | GRCh38 |
| NC_000001.10:g.103444627G>A , CM000663.1:g.103444627G>A | GRCh37 |
| NC_000001.9:g.103217215G>A | NCBI36 |
| NG_008033.1:g.134426C>T | |
| NG_008033.2:g.134426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2644C>T MANE Select | ENSP00000359114.3:p.Arg882Cys | |
| ENST00000353414.8:c.2527C>T | ENSP00000302551.6:p.Arg843Cys | |
| ENST00000358392.6:c.2680C>T | ENSP00000351163.2:p.Arg894Cys | |
| ENST00000370096.7:c.2644C>T | ENSP00000359114.3:p.Arg882Cys | |
| ENST00000512756.5:c.2296C>T | ENSP00000426533.1:p.Arg766Cys | |
| ENST00000635193.1:c.1978C>T | ||
| NM_001190709.1:c.2527C>T | NP_001177638.1:p.Arg843Cys | |
| NM_001854.3:c.2644C>T | NP_001845.3:p.Arg882Cys | |
| NM_080629.2:c.2680C>T | NP_542196.2:p.Arg894Cys | |
| NM_080630.3:c.2296C>T | NP_542197.3:p.Arg766Cys | |
| XM_011540719.1:c.2644C>T | XP_011539021.1:p.Arg882Cys | |
| XM_011540720.1:c.877C>T | XP_011539022.1:p.Arg293Cys | |
| XM_011540721.1:c.232C>T | XP_011539023.1:p.Arg78Cys | |
| XR_946545.1:n.3058C>T | ||
| NR_134980.1:n.2978C>T | ||
| XM_017000334.1:c.2797C>T | XP_016855823.1:p.Arg933Cys | |
| XM_017000335.1:c.2791C>T | XP_016855824.1:p.Arg931Cys | |
| XM_017000336.1:c.2797C>T | XP_016855825.1:p.Arg933Cys | |
| XM_017000337.1:c.1195C>T | XP_016855826.1:p.Arg399Cys | |
| NM_001854.4:c.2644C>T MANE Select | NP_001845.3:p.Arg882Cys | |
| NM_080630.4:c.2296C>T | NP_542197.3:p.Arg766Cys | |
| NR_134980.2:n.3004C>T | ||
| NM_001190709.2:c.2527C>T | NP_001177638.1:p.Arg843Cys | |
| NM_080629.3:c.2680C>T | NP_542196.2:p.Arg894Cys |