Linked Data
dbSNP Id:
rs1572050
gnomAD v2:
13-94870765-G-A
gnomAD v3:
13-94218511-G-A
gnomAD v4:
13-94218511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94218511G>A , CM000675.2:g.94218511G>A | GRCh38 |
| NC_000013.10:g.94870765G>A , CM000675.1:g.94870765G>A | GRCh37 |
| NC_000013.9:g.93668766G>A | NCBI36 |
| NG_011880.1:g.996688G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377047.9:c.878-67838G>A MANE Select | ENSP00000366246.3:n.878-67838G>A | |
| ENST00000377047.8:c.878-67838G>A | ENSP00000366246.3:n.878-67838G>A | |
| NM_005708.3:c.878-67838G>A | NP_005699.1:n.878-67838G>A | |
| XM_011521044.1:c.668-67838G>A | XP_011519346.1:n.668-67838G>A | |
| NM_005708.4:c.878-67838G>A | NP_005699.1:n.878-67838G>A | |
| XM_011521044.2:c.668-67838G>A | XP_011519346.1:n.668-67838G>A | |
| XM_017020298.1:c.668-67838G>A | XP_016875787.1:n.668-67838G>A | |
| XM_017020299.2:c.668-67838G>A | XP_016875788.1:n.668-67838G>A | |
| XM_017020300.1:c.668-67838G>A | XP_016875789.1:n.668-67838G>A | |
| XM_017020301.1:c.512-67838G>A | XP_016875790.1:n.512-67838G>A | |
| XM_017020302.1:c.185-67838G>A | XP_016875791.1:n.185-67838G>A | |
| NM_005708.5:c.878-67838G>A MANE Select | NP_005699.1:n.878-67838G>A |