Linked Data
dbSNP Id:
rs72552094
gnomAD v2:
4-71896289-C-A
gnomAD v3:
4-71030572-C-A
gnomAD v4:
4-71030572-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030572C>A , CM000666.2:g.71030572C>A | GRCh38 |
| NC_000004.11:g.71896289C>A , CM000666.1:g.71896289C>A | GRCh37 |
| NC_000004.10:g.72115153C>A | NCBI36 |
| NG_023303.1:g.42025C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1194C>A MANE Select | ENSP00000286648.5:n.*1194C>A | |
| ENST00000286648.9:c.*1194C>A | ENSP00000286648.5:n.*1194C>A | |
| ENST00000503359.5:c.*1921C>A | ENSP00000426389.1:n.*1921C>A | |
| ENST00000504730.5:c.*1261C>A | ENSP00000425578.1:n.*1261C>A | |
| ENST00000504952.1:c.*1120C>A | ENSP00000421508.1:n.*1120C>A | |
| NM_000788.2:c.*1194C>A | NP_000779.1:n.*1194C>A | |
| NM_000788.3:c.*1194C>A MANE Select | NP_000779.1:n.*1194C>A |