Linked Data
dbSNP Id:
rs12095080
gnomAD v2:
1-54376730-A-G
gnomAD v3:
1-53911057-A-G
gnomAD v4:
1-53911057-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53911057A>G , CM000663.2:g.53911057A>G | GRCh38 |
| NC_000001.10:g.54376730A>G , CM000663.1:g.54376730A>G | GRCh37 |
| NC_000001.9:g.54149318A>G | NCBI36 |
| NG_023306.1:g.21870A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361921.8:c.*1058A>G MANE Select | ENSP00000354643.4:n.*1058A>G | |
| ENST00000322679.10:c.*1122A>G | ENSP00000323198.6:n.*1122A>G | |
| ENST00000361921.7:c.*1058A>G | ENSP00000354643.3:n.*1058A>G | |
| ENST00000613679.4:c.*1058A>G | ENSP00000479755.1:n.*1058A>G | |
| ENST00000617230.2:c.*1122A>G | ENSP00000481665.1:n.*1122A>G | |
| NM_000792.5:c.*1058A>G | NP_000783.2:n.*1058A>G | |
| NM_001039715.1:c.*1058A>G | NP_001034804.1:n.*1058A>G | |
| NM_001039716.1:c.*1122A>G | NP_001034805.1:n.*1122A>G | |
| NM_213593.3:c.*1058A>G | NP_998758.1:n.*1058A>G | |
| NM_000792.6:c.*1058A>G | NP_000783.2:n.*1058A>G | |
| NM_001039715.2:c.*1058A>G | NP_001034804.1:n.*1058A>G | |
| NM_001039716.2:c.*1122A>G | NP_001034805.1:n.*1122A>G | |
| NM_001324316.1:c.*1122A>G | NP_001311245.1:n.*1122A>G | |
| NM_213593.4:c.*1058A>G | NP_998758.1:n.*1058A>G | |
| NR_136692.1:n.1723A>G | ||
| NR_136693.1:n.1749A>G | ||
| NM_000792.7:c.*1058A>G MANE Select | NP_000783.2:n.*1058A>G | |
| NM_001039715.3:c.*1058A>G | NP_001034804.1:n.*1058A>G | |
| NM_001039716.3:c.*1122A>G | NP_001034805.1:n.*1122A>G | |
| NM_001324316.2:c.*1122A>G | NP_001311245.1:n.*1122A>G | |
| NM_213593.5:c.*1058A>G | NP_998758.1:n.*1058A>G | |
| NR_136692.2:n.1723A>G | ||
| NR_136693.2:n.1749A>G |