Linked Data
ClinVar Variation Id:
137624
dbSNP Id:
rs587777448
gnomAD v4:
2-162273914-G-A
COSMIC:
COSM275529
PubMed:
PMID:24686847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162273914G>A , CM000664.2:g.162273914G>A | GRCh38 |
| NC_000002.11:g.163130424G>A , CM000664.1:g.163130424G>A | GRCh37 |
| NC_000002.10:g.162838670G>A | NCBI36 |
| NG_011495.1:g.49616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1932C>T | ENSP00000513228.1:n.*1932C>T | |
| ENST00000648433.1:c.2218C>T | ENSP00000496816.1:p.Arg740Cys | |
| ENST00000649554.1:n.1945C>T | ||
| ENST00000649979.2:c.2335C>T MANE Select | ENSP00000497271.1:p.Arg779Cys | |
| ENST00000679938.1:c.2023C>T | ENSP00000505518.1:p.Arg675Cys | |
| ENST00000263642.2:c.2335C>T | ENSP00000263642.2:p.Arg779Cys | |
| NM_022168.3:c.2335C>T | NP_071451.2:p.Arg779Cys | |
| XM_011511628.1:c.1618C>T | XP_011509930.1:p.Arg540Cys | |
| NM_022168.4:c.2335C>T MANE Select | NP_071451.2:p.Arg779Cys |