Linked Data
ClinVar Variation Id:
1899094
ClinVar RCV Id:
RCV002575291
dbSNP Id:
rs370494262
gnomAD v3:
10-133373325-G-T
gnomAD v4:
10-133373325-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373325G>T , CM000672.2:g.133373325G>T | GRCh38 |
| NC_000010.10:g.135186829G>T , CM000672.1:g.135186829G>T | GRCh37 |
| NC_000010.9:g.135036819G>T | NCBI36 |
| NG_042077.1:g.5080C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.9C>A MANE Select | ENSP00000357535.3:p.Ala3= | |
| ENST00000368547.3:c.9C>A | ENSP00000357535.3:p.Ala3= | |
| NM_004092.3:c.9C>A | NP_004083.3:p.Ala3= | |
| XR_002956965.1:n.72C>A | ||
| NM_004092.4:c.9C>A MANE Select | NP_004083.3:p.Ala3= |