Linked Data
ClinVar Variation Id:
917443
dbSNP Id:
rs1355562073
gnomAD v2:
13-28498441-C-T
gnomAD v4:
13-27924304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924304C>T , CM000675.2:g.27924304C>T | GRCh38 |
| NC_000013.10:g.28498441C>T , CM000675.1:g.28498441C>T | GRCh37 |
| NC_000013.9:g.27396441C>T | NCBI36 |
| NG_008183.1:g.9274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.455C>T MANE Select | ENSP00000370421.4:p.Ala152Val | |
| ENST00000381033.4:c.455C>T | ENSP00000370421.4:p.Ala152Val | |
| NM_000209.3:c.455C>T | NP_000200.1:p.Ala152Val | |
| XR_941579.1:n.2181C>T | ||
| XR_941580.1:n.1097C>T | ||
| XR_941578.2:n.3594C>T | ||
| XR_941580.2:n.1109C>T | ||
| NM_000209.4:c.455C>T MANE Select | NP_000200.1:p.Ala152Val |