Linked Data
dbSNP Id:
rs10494067
gnomAD v2:
1-107830858-A-C
gnomAD v3:
1-107288236-A-C
gnomAD v4:
1-107288236-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.107288236A>C , CM000663.2:g.107288236A>C | GRCh38 |
| NC_000001.10:g.107830858A>C , CM000663.1:g.107830858A>C | GRCh37 |
| NC_000001.9:g.107632381A>C | NCBI36 |
| NG_042821.1:g.153319A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370068.6:c.247-36046A>C MANE Select | ENSP00000359085.1:n.247-36046A>C | |
| ENST00000294649.8:n.986-36046A>C | ||
| ENST00000370065.1:c.247-36046A>C | ENSP00000359082.1:n.247-36046A>C | |
| ENST00000370066.5:c.247-36046A>C | ENSP00000359083.1:n.247-36046A>C | |
| ENST00000370067.5:c.247-36046A>C | ENSP00000359084.1:n.247-36046A>C | |
| ENST00000370068.5:c.247-36046A>C | ENSP00000359085.1:n.247-36046A>C | |
| ENST00000370071.6:c.247-36046A>C | ENSP00000359088.2:n.247-36046A>C | |
| ENST00000370073.6:c.247-36046A>C | ENSP00000359090.2:n.247-36046A>C | |
| ENST00000370074.8:c.247-36046A>C | ENSP00000359091.3:n.247-36046A>C | |
| ENST00000477948.1:n.214+27220A>C | ||
| NM_001113226.1:c.247-36046A>C | NP_001106697.1:n.247-36046A>C | |
| NM_001113226.2:c.247-36046A>C | NP_001106697.1:n.247-36046A>C | |
| NM_001113228.1:c.247-36046A>C | NP_001106699.1:n.247-36046A>C | |
| NM_001113228.2:c.247-36046A>C | NP_001106699.1:n.247-36046A>C | |
| NM_001312688.1:c.247-36046A>C | NP_001299617.1:n.247-36046A>C | |
| NM_014917.2:c.247-36046A>C | NP_055732.2:n.247-36046A>C | |
| NM_014917.3:c.247-36046A>C | NP_055732.2:n.247-36046A>C | |
| XM_006710455.2:c.247-36046A>C | XP_006710518.1:n.247-36046A>C | |
| XM_006710456.2:c.247-36046A>C | XP_006710519.1:n.247-36046A>C | |
| XM_006710457.2:c.247-36046A>C | XP_006710520.1:n.247-36046A>C | |
| XM_011541021.1:c.247-36046A>C | XP_011539323.1:n.247-36046A>C | |
| XM_011541022.1:c.247-36046A>C | XP_011539324.1:n.247-36046A>C | |
| XM_011541024.1:c.247-36046A>C | XP_011539326.1:n.247-36046A>C | |
| XM_011541025.1:c.247-36046A>C | XP_011539327.1:n.247-36046A>C | |
| NM_001330665.1:c.247-36046A>C | NP_001317594.1:n.247-36046A>C | |
| XM_006710455.3:c.247-36046A>C | XP_006710518.1:n.247-36046A>C | |
| XM_006710456.4:c.247-36046A>C | XP_006710519.1:n.247-36046A>C | |
| XM_011541021.2:c.247-36046A>C | XP_011539323.1:n.247-36046A>C | |
| XM_011541025.2:c.247-36046A>C | XP_011539327.1:n.247-36046A>C | |
| XM_017000680.2:c.247-36046A>C | XP_016856169.1:n.247-36046A>C | |
| XM_017000681.2:c.247-36046A>C | XP_016856170.1:n.247-36046A>C | |
| XM_017000682.2:c.247-36046A>C | XP_016856171.1:n.247-36046A>C | |
| XM_017000683.2:c.247-36046A>C | XP_016856172.1:n.247-36046A>C | |
| XM_017000686.2:c.247-36046A>C | XP_016856175.1:n.247-36046A>C | |
| NM_001113226.3:c.247-36046A>C MANE Select | NP_001106697.1:n.247-36046A>C | |
| NM_001113228.3:c.247-36046A>C | NP_001106699.1:n.247-36046A>C | |
| NM_001312688.2:c.247-36046A>C | NP_001299617.1:n.247-36046A>C | |
| NM_001330665.2:c.247-36046A>C | NP_001317594.1:n.247-36046A>C | |
| NM_001372166.1:c.247-36046A>C | NP_001359095.1:n.247-36046A>C | |
| NM_001372167.1:c.247-36046A>C | NP_001359096.1:n.247-36046A>C | |
| NM_001372168.1:c.247-36046A>C | NP_001359097.1:n.247-36046A>C | |
| NM_001372169.1:c.247-36046A>C | NP_001359098.1:n.247-36046A>C | |
| NM_001372170.1:c.247-36046A>C | NP_001359099.1:n.247-36046A>C | |
| NM_001372171.1:c.247-36046A>C | NP_001359100.1:n.247-36046A>C | |
| NM_014917.4:c.247-36046A>C | NP_055732.2:n.247-36046A>C |