Linked Data
ClinVar Variation Id:
1906487
ClinVar RCV Id:
RCV002586948
dbSNP Id:
rs150991567
ExAC:
5:95751771 G / A
gnomAD v2:
5-95751771-G-A
gnomAD v3:
5-96416067-G-A
gnomAD v4:
5-96416067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416067G>A , CM000667.2:g.96416067G>A | GRCh38 |
| NC_000005.9:g.95751771G>A , CM000667.1:g.95751771G>A | GRCh37 |
| NC_000005.8:g.95777527G>A | NCBI36 |
| NG_021161.1:g.22215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.675C>T MANE Select | ENSP00000308024.2:p.Cys225= | |
| ENST00000311106.7:c.675C>T | ENSP00000308024.2:p.Cys225= | |
| ENST00000508626.5:c.534C>T | ENSP00000421600.1:p.Cys178= | |
| NM_000439.4:c.675C>T | NP_000430.3:p.Cys225= | |
| NM_001177875.1:c.534C>T | NP_001171346.1:p.Cys178= | |
| NR_130776.1:n.354+36415G>A | ||
| NM_000439.5:c.675C>T MANE Select | NP_000430.3:p.Cys225= | |
| NM_001177875.2:c.534C>T | NP_001171346.1:p.Cys178= |