Linked Data
dbSNP Id:
rs11843309
gnomAD v2:
13-70454960-C-T
gnomAD v3:
13-69880828-C-T
gnomAD v4:
13-69880828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.69880828C>T , CM000675.2:g.69880828C>T | GRCh38 |
| NC_000013.10:g.70454960C>T , CM000675.1:g.70454960C>T | GRCh37 |
| NC_000013.9:g.69352961C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377844.9:c.1227+1455G>A MANE Select | ENSP00000367075.4:n.1227+1455G>A | |
| ENST00000377844.8:c.1227+1455G>A | ENSP00000367075.4:n.1227+1455G>A | |
| ENST00000545028.2:c.1044+1455G>A | ENSP00000439602.2:n.1044+1455G>A | |
| NM_001286725.1:c.1044+1455G>A | NP_001273654.1:n.1044+1455G>A | |
| NM_020866.2:c.1227+1455G>A | NP_065917.1:n.1227+1455G>A | |
| XM_017020678.2:c.708+1455G>A | XP_016876167.1:n.708+1455G>A | |
| XM_017020679.1:c.558+1455G>A | XP_016876168.1:n.558+1455G>A | |
| NM_020866.3:c.1227+1455G>A MANE Select | NP_065917.1:n.1227+1455G>A | |
| NM_001286725.2:c.1044+1455G>A | NP_001273654.1:n.1044+1455G>A |