Linked Data
dbSNP Id:
rs779447500
ExAC:
5:161530896 T / A
gnomAD v2:
5-161530896-T-A
gnomAD v4:
5-162103890-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162103890T>A , CM000667.2:g.162103890T>A | GRCh38 |
| NC_000005.9:g.161530896T>A , CM000667.1:g.161530896T>A | GRCh37 |
| NC_000005.8:g.161463474T>A | NCBI36 |
| NG_009290.1:g.41249T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.595T>A | ||
| ENST00000361925.9:c.753T>A | ENSP00000354651.5:p.Asp251Glu | |
| ENST00000522053.2:n.524T>A | ||
| ENST00000523372.2:c.716T>A | ||
| ENST00000638552.1:c.348T>A | ENSP00000491763.1:p.Tyr116Ter | |
| ENST00000638660.1:c.348T>A | ENSP00000492869.1:p.Tyr116Ter | |
| ENST00000638772.1:c.633T>A | ENSP00000491557.1:p.Tyr211Ter | |
| ENST00000638782.1:n.695T>A | ||
| ENST00000638877.1:c.510T>A | ||
| ENST00000639046.1:c.24T>A | ENSP00000492659.1:p.Asp8Glu | |
| ENST00000639111.2:c.633T>A | ENSP00000492125.2:p.Tyr211Ter | |
| ENST00000639213.2:c.633T>A MANE Select | ENSP00000491909.2:p.Tyr211Ter | |
| ENST00000639278.1:c.561T>A | ENSP00000491958.1:p.Tyr187Ter | |
| ENST00000639384.1:c.633T>A | ENSP00000491240.1:p.Tyr211Ter | |
| ENST00000639424.1:c.107+35784T>A | ENSP00000491245.1:n.107+35784T>A | |
| ENST00000639683.1:c.567T>A | ENSP00000492581.1:p.Tyr189Ter | |
| ENST00000639975.1:c.567T>A | ENSP00000492096.1:p.Tyr189Ter | |
| ENST00000640574.1:c.348T>A | ENSP00000491582.1:p.Tyr116Ter | |
| ENST00000640739.1:n.3164T>A | ||
| ENST00000640910.1:c.71T>A | ||
| ENST00000640985.1:c.546T>A | ENSP00000492293.1:p.Tyr182Ter | |
| ENST00000641017.1:c.633T>A | ENSP00000493461.1:p.Tyr211Ter | |
| ENST00000356592.7:c.633T>A | ENSP00000349000.3:p.Tyr211Ter | |
| ENST00000361925.8:c.633T>A | ENSP00000354651.4:p.Tyr211Ter | |
| ENST00000414552.6:c.753T>A | ENSP00000410732.2:p.Asp251Glu | |
| ENST00000522053.1:c.348T>A | ENSP00000430182.1:p.Tyr116Ter | |
| ENST00000522990.5:c.*235T>A | ENSP00000430732.1:n.*235T>A | |
| ENST00000523372.1:c.754T>A | ENSP00000430124.1:n.754T>A | |
| NM_000816.3:c.633T>A | NP_000807.2:p.Tyr211Ter | |
| NM_198903.2:c.753T>A | NP_944493.2:p.Asp251Glu | |
| NM_198904.2:c.633T>A | NP_944494.1:p.Tyr211Ter | |
| NM_001375339.1:c.624T>A | NP_001362268.1:p.Tyr208Ter | |
| NM_001375340.1:c.633T>A | NP_001362269.1:p.Tyr211Ter | |
| NM_001375341.1:c.633T>A | NP_001362270.1:p.Tyr211Ter | |
| NM_001375342.1:c.633T>A | NP_001362271.1:p.Tyr211Ter | |
| NM_001375343.1:c.753T>A | NP_001362272.1:p.Asp251Glu | |
| NM_001375344.1:c.633T>A | NP_001362273.1:p.Tyr211Ter | |
| NM_001375345.1:c.567T>A | NP_001362274.1:p.Tyr189Ter | |
| NM_001375346.1:c.567T>A | NP_001362275.1:p.Tyr189Ter | |
| NM_001375347.1:c.546T>A | NP_001362276.1:p.Tyr182Ter | |
| NM_001375348.1:c.213T>A | NP_001362277.1:p.Tyr71Ter | |
| NM_001375349.1:c.348T>A | NP_001362278.1:p.Tyr116Ter | |
| NM_001375350.1:c.213T>A | NP_001362279.1:p.Tyr71Ter | |
| NM_198904.3:c.633T>A | NP_944494.1:p.Tyr211Ter | |
| NM_198904.4:c.633T>A MANE Select | NP_944494.1:p.Tyr211Ter |