Linked Data
ClinVar Variation Id:
13698
ClinVar RCV Id:
RCV000014697
dbSNP Id:
rs1128501
COSMIC:
COSM6020523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87566218C>A , CM000669.2:g.87566218C>A | GRCh38 |
| NC_000007.13:g.87195534C>A , CM000669.1:g.87195534C>A | GRCh37 |
| NC_000007.12:g.87033470C>A | NCBI36 |
| NG_011513.1:g.152031G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.554G>T | ENSP00000265724.3:p.Gly185Val | |
| ENST00000622132.5:c.554G>T MANE Select | ENSP00000478255.1:p.Gly185Val | |
| ENST00000265724.7:c.554G>T | ENSP00000265724.3:p.Gly185Val | |
| ENST00000543898.5:c.362G>T | ENSP00000444095.1:p.Gly121Val | |
| ENST00000622132.4:c.554G>T | ENSP00000478255.1:p.Gly185Val | |
| NM_000927.4:c.554G>T | NP_000918.2:p.Gly185Val | |
| NM_001348944.1:c.554G>T | NP_001335873.1:p.Gly185Val | |
| NM_001348945.1:c.764G>T | NP_001335874.1:p.Gly255Val | |
| NM_001348946.1:c.554G>T | NP_001335875.1:p.Gly185Val | |
| NM_001348946.2:c.554G>T MANE Select | NP_001335875.1:p.Gly185Val | |
| NM_000927.5:c.554G>T | NP_000918.2:p.Gly185Val | |
| NM_001348944.2:c.554G>T | NP_001335873.1:p.Gly185Val | |
| NM_001348945.2:c.764G>T | NP_001335874.1:p.Gly255Val |