Linked Data
ClinVar Variation Id:
1333563
ClinVar RCV Id:
RCV001808251
dbSNP Id:
rs150991567
gnomAD v4:
5-96416067-G-T
COSMIC:
COSM314021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416067G>T , CM000667.2:g.96416067G>T | GRCh38 |
| NC_000005.9:g.95751771G>T , CM000667.1:g.95751771G>T | GRCh37 |
| NC_000005.8:g.95777527G>T | NCBI36 |
| NG_021161.1:g.22215C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.675C>A MANE Select | ENSP00000308024.2:p.Cys225Ter | |
| ENST00000311106.7:c.675C>A | ENSP00000308024.2:p.Cys225Ter | |
| ENST00000508626.5:c.534C>A | ENSP00000421600.1:p.Cys178Ter | |
| NM_000439.4:c.675C>A | NP_000430.3:p.Cys225Ter | |
| NM_001177875.1:c.534C>A | NP_001171346.1:p.Cys178Ter | |
| NR_130776.1:n.354+36415G>T | ||
| NM_000439.5:c.675C>A MANE Select | NP_000430.3:p.Cys225Ter | |
| NM_001177875.2:c.534C>A | NP_001171346.1:p.Cys178Ter |