Linked Data
dbSNP Id:
rs11724758
gnomAD v2:
4-120239878-G-A
gnomAD v3:
4-119318723-G-A
gnomAD v4:
4-119318723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119318723G>A , CM000666.2:g.119318723G>A | GRCh38 |
| NC_000004.11:g.120239878G>A , CM000666.1:g.120239878G>A | GRCh37 |
| NC_000004.10:g.120459326G>A | NCBI36 |
| NG_011444.1:g.8439C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.*318C>T MANE Select | ENSP00000274024.3:n.*318C>T | |
| ENST00000274024.3:c.*318C>T | ENSP00000274024.3:n.*318C>T | |
| NM_000134.3:c.*318C>T | NP_000125.2:n.*318C>T | |
| NM_000134.4:c.*318C>T MANE Select | NP_000125.2:n.*318C>T |