Linked Data
ClinVar Variation Id:
7836
dbSNP Id:
rs121909232
gnomAD v2:
10-89712015-C-A
gnomAD v4:
10-87952258-C-A
COSMIC:
COSM5306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952258C>A , CM000672.2:g.87952258C>A | GRCh38 |
| NC_000010.10:g.89712015C>A , CM000672.1:g.89712015C>A | GRCh37 |
| NC_000010.9:g.89701995C>A | NCBI36 |
| NG_007466.2:g.93820C>A , LRG_311:g.93820C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.633C>A | ENSP00000514759.2:p.Cys211Ter | |
| ENST00000710265.1:c.633C>A | ENSP00000518161.1:p.Cys211Ter | |
| ENST00000472832.3:c.633C>A | ENSP00000483066.2:p.Cys211Ter | |
| ENST00000688158.2:n.1368C>A | ||
| ENST00000688922.2:c.*463C>A | ENSP00000508742.2:n.*463C>A | |
| ENST00000700021.1:c.588C>A | ENSP00000514757.1:p.Cys196Ter | |
| ENST00000700022.1:c.493-5595C>A | ENSP00000514758.1:n.493-5595C>A | |
| ENST00000700023.1:n.1791C>A | ||
| ENST00000700024.1:n.2025C>A | ||
| ENST00000700025.1:n.1402C>A | ||
| ENST00000700029.1:c.467C>A | ||
| ENST00000706954.1:c.633C>A | ENSP00000516674.1:p.Cys211Ter | |
| ENST00000706955.1:c.*668C>A | ENSP00000516675.1:n.*668C>A | |
| ENST00000686459.1:c.*219C>A | ENSP00000508909.1:n.*219C>A | |
| ENST00000688158.1:c.*744C>A | ENSP00000509254.1:n.*744C>A | |
| ENST00000688308.1:c.633C>A | ENSP00000508752.1:p.Cys211Ter | |
| ENST00000688922.1:c.554C>A | ||
| ENST00000693560.1:c.1152C>A | ENSP00000509861.1:p.Cys384Ter | |
| ENST00000371953.8:c.633C>A MANE Select | ENSP00000361021.3:p.Cys211Ter | |
| ENST00000371953.7:c.633C>A | ENSP00000361021.3:p.Cys211Ter | |
| ENST00000472832.2:c.60C>A | ENSP00000483066.1:p.Cys20Ter | |
| NM_000314.5:c.633C>A | NP_000305.3:p.Cys211Ter | |
| NM_000314.6:c.633C>A | NP_000305.3:p.Cys211Ter | |
| NM_001304717.2:c.1152C>A | NP_001291646.2:p.Cys384Ter | |
| NM_001304718.1:c.42C>A | NP_001291647.1:p.Cys14Ter | |
| XM_006717926.2:c.588C>A | XP_006717989.1:p.Cys196Ter | |
| XM_011539981.1:c.633C>A | XP_011538283.1:p.Cys211Ter | |
| XM_011539982.1:c.537C>A | XP_011538284.1:p.Cys179Ter | |
| XR_945791.1:n.1205-5595C>A | ||
| NM_000314.7:c.633C>A | NP_000305.3:p.Cys211Ter | |
| NM_001304717.5:c.1152C>A | NP_001291646.4:p.Cys384Ter | |
| NM_001304718.2:c.42C>A | NP_001291647.1:p.Cys14Ter | |
| NM_000314.8:c.633C>A MANE Select | NP_000305.3:p.Cys211Ter |