Linked Data
dbSNP Id:
rs771334771
ExAC:
1:54375591 G / A
gnomAD v2:
1-54375591-G-A
gnomAD v3:
1-53909918-G-A
gnomAD v4:
1-53909918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53909918G>A , CM000663.2:g.53909918G>A | GRCh38 |
| NC_000001.10:g.54375591G>A , CM000663.1:g.54375591G>A | GRCh37 |
| NC_000001.9:g.54148179G>A | NCBI36 |
| NG_023306.1:g.20731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361921.8:c.682-13G>A MANE Select | ENSP00000354643.4:n.682-13G>A | |
| ENST00000322679.10:c.482-13G>A | ENSP00000323198.6:n.482-13G>A | |
| ENST00000361921.7:c.682-13G>A | ENSP00000354643.3:n.682-13G>A | |
| ENST00000388876.3:c.538-13G>A | ENSP00000373528.3:n.538-13G>A | |
| ENST00000524406.5:c.295-13G>A | ENSP00000434152.1:n.295-13G>A | |
| ENST00000525044.5:c.*124-13G>A | ENSP00000436550.1:n.*124-13G>A | |
| ENST00000525202.5:c.490-13G>A | ENSP00000435725.1:n.490-13G>A | |
| ENST00000527060.5:c.*422-13G>A | ENSP00000435030.1:n.*422-13G>A | |
| ENST00000528946.5:c.*60-13G>A | ENSP00000433891.1:n.*60-13G>A | |
| ENST00000529329.1:c.455-13G>A | ENSP00000432700.1:n.455-13G>A | |
| ENST00000530084.5:c.*324-13G>A | ENSP00000431999.1:n.*324-13G>A | |
| ENST00000532493.5:c.338-13G>A | ENSP00000434758.1:n.338-13G>A | |
| ENST00000610607.4:c.*341-13G>A | ENSP00000483367.1:n.*341-13G>A | |
| ENST00000613679.4:c.679-13G>A | ENSP00000479755.1:n.679-13G>A | |
| ENST00000617230.2:c.479-13G>A | ENSP00000481665.1:n.479-13G>A | |
| NM_000792.5:c.682-13G>A | NP_000783.2:n.682-13G>A | |
| NM_001039715.1:c.538-13G>A | NP_001034804.1:n.538-13G>A | |
| NM_001039716.1:c.482-13G>A | NP_001034805.1:n.482-13G>A | |
| NM_213593.3:c.490-13G>A | NP_998758.1:n.490-13G>A | |
| NM_000792.6:c.682-13G>A | NP_000783.2:n.682-13G>A | |
| NM_001039715.2:c.538-13G>A | NP_001034804.1:n.538-13G>A | |
| NM_001039716.2:c.482-13G>A | NP_001034805.1:n.482-13G>A | |
| NM_001324316.1:c.338-13G>A | NP_001311245.1:n.338-13G>A | |
| NM_213593.4:c.490-13G>A | NP_998758.1:n.490-13G>A | |
| NR_136692.1:n.597-13G>A | ||
| NR_136693.1:n.623-13G>A | ||
| NM_000792.7:c.682-13G>A MANE Select | NP_000783.2:n.682-13G>A | |
| NM_001039715.3:c.538-13G>A | NP_001034804.1:n.538-13G>A | |
| NM_001039716.3:c.482-13G>A | NP_001034805.1:n.482-13G>A | |
| NM_001324316.2:c.338-13G>A | NP_001311245.1:n.338-13G>A | |
| NM_213593.5:c.490-13G>A | NP_998758.1:n.490-13G>A | |
| NR_136692.2:n.597-13G>A | ||
| NR_136693.2:n.623-13G>A |