Linked Data
dbSNP Id:
rs1230840984
gnomAD v2:
2-169779457-C-A
gnomAD v3:
2-168922947-C-A
gnomAD v4:
2-168922947-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168922947C>A , CM000664.2:g.168922947C>A | GRCh38 |
| NC_000002.11:g.169779457C>A , CM000664.1:g.169779457C>A | GRCh37 |
| NC_000002.10:g.169487703C>A | NCBI36 |
| NG_007374.1:g.113377G>T | |
| NG_007374.2:g.113450G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648875.1:c.226+1710G>T | ||
| ENST00000650372.1:c.*675G>T MANE Select | ENSP00000497931.1:n.*675G>T | |
| ENST00000263817.6:c.*675G>T | ENSP00000263817.6:n.*675G>T | |
| NM_003742.2:c.*675G>T | NP_003733.2:n.*675G>T | |
| XM_006712817.2:c.*675G>T | XP_006712880.1:n.*675G>T | |
| XM_011512077.1:c.*675G>T | XP_011510379.1:n.*675G>T | |
| XM_011512078.1:c.*629G>T | XP_011510380.1:n.*629G>T | |
| XM_011512079.1:c.*675G>T | XP_011510381.1:n.*675G>T | |
| XM_011512081.1:c.*675G>T | XP_011510383.1:n.*675G>T | |
| NM_003742.4:c.*675G>T MANE Select | NP_003733.2:n.*675G>T | |
| XM_006712817.3:c.*675G>T | XP_006712880.1:n.*675G>T | |
| XM_011512077.2:c.*675G>T | XP_011510379.1:n.*675G>T | |
| XM_011512078.2:c.*629G>T | XP_011510380.1:n.*629G>T | |
| XM_011512081.2:c.*675G>T | XP_011510383.1:n.*675G>T | |
| XM_017005165.1:c.3867+1710G>T | XP_016860654.1:n.3867+1710G>T | |
| XM_017005166.1:c.*675G>T | XP_016860655.1:n.*675G>T | |
| XM_017005167.1:c.*675G>T | XP_016860656.1:n.*675G>T |