Linked Data
dbSNP Id:
rs779322258
ExAC:
1:5924133 C / T
gnomAD v2:
1-5924133-C-T
gnomAD v3:
1-5864073-C-T
gnomAD v4:
1-5864073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864073C>T , CM000663.2:g.5864073C>T | GRCh38 |
| NC_000001.10:g.5924133C>T , CM000663.1:g.5924133C>T | GRCh37 |
| NC_000001.9:g.5846720C>T | NCBI36 |
| NG_011724.2:g.133399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3997-40G>A MANE Select | ENSP00000367398.4:n.3997-40G>A | |
| ENST00000378156.8:c.3997-40G>A | ENSP00000367398.4:n.3997-40G>A | |
| ENST00000378161.5:n.3108G>A | ||
| ENST00000378169.7:c.*2898-40G>A | ENSP00000367411.3:n.*2898-40G>A | |
| ENST00000460696.1:n.2745-40G>A | ||
| ENST00000478423.6:n.3729-40G>A | ||
| ENST00000489180.6:c.*1808-40G>A | ENSP00000423747.1:n.*1808-40G>A | |
| NM_001291593.1:c.2458-40G>A | NP_001278522.1:n.2458-40G>A | |
| NM_001291594.1:c.2461-40G>A | NP_001278523.1:n.2461-40G>A | |
| NM_015102.4:c.3997-40G>A | NP_055917.1:n.3997-40G>A | |
| NR_111987.1:n.4812-40G>A | ||
| XM_006710563.2:c.3997-40G>A | XP_006710626.1:n.3997-40G>A | |
| XM_006710565.2:c.3997-40G>A | XP_006710628.1:n.3997-40G>A | |
| XM_011541213.1:c.3994-40G>A | XP_011539515.1:n.3994-40G>A | |
| XM_011541214.1:c.3955-40G>A | XP_011539516.1:n.3955-40G>A | |
| XM_011541215.1:c.3886-40G>A | XP_011539517.1:n.3886-40G>A | |
| XM_011541216.1:c.3997-40G>A | XP_011539518.1:n.3997-40G>A | |
| XM_011541217.1:c.3997-40G>A | XP_011539519.1:n.3997-40G>A | |
| XM_011541218.1:c.3997-40G>A | XP_011539520.1:n.3997-40G>A | |
| XM_011541219.1:c.3943-40G>A | XP_011539521.1:n.3943-40G>A | |
| XM_006710563.3:c.3997-40G>A | XP_006710626.1:n.3997-40G>A | |
| XM_011541216.2:c.3997-40G>A | XP_011539518.1:n.3997-40G>A | |
| XM_011541217.2:c.3997-40G>A | XP_011539519.1:n.3997-40G>A | |
| XM_011541218.2:c.3997-40G>A | XP_011539520.1:n.3997-40G>A | |
| XM_017000996.1:c.3952-40G>A | XP_016856485.1:n.3952-40G>A | |
| XM_017000997.1:c.3997-40G>A | XP_016856486.1:n.3997-40G>A | |
| XM_017000999.1:c.3469-40G>A | XP_016856488.1:n.3469-40G>A | |
| XM_017001000.2:c.3469-40G>A | XP_016856489.1:n.3469-40G>A | |
| XM_017001001.1:c.3199-40G>A | XP_016856490.1:n.3199-40G>A | |
| XM_017001003.1:c.2458-40G>A | XP_016856492.1:n.2458-40G>A | |
| XR_001737114.1:n.3863-40G>A | ||
| XR_001737115.1:n.3848-40G>A | ||
| NM_015102.5:c.3997-40G>A MANE Select | NP_055917.1:n.3997-40G>A | |
| NM_001291593.2:c.2458-40G>A | NP_001278522.1:n.2458-40G>A | |
| NM_001291594.2:c.2461-40G>A | NP_001278523.1:n.2461-40G>A | |
| NR_111987.2:n.4764-40G>A |