Linked Data
ClinVar Variation Id:
668350
dbSNP Id:
rs779617978
ExAC:
5:161530887 C / T
gnomAD v2:
5-161530887-C-T
gnomAD v3:
5-162103881-C-T
gnomAD v4:
5-162103881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162103881C>T , CM000667.2:g.162103881C>T | GRCh38 |
| NC_000005.9:g.161530887C>T , CM000667.1:g.161530887C>T | GRCh37 |
| NC_000005.8:g.161463465C>T | NCBI36 |
| NG_009290.1:g.41240C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.594-8C>T | ||
| ENST00000361925.9:c.752-8C>T | ENSP00000354651.5:n.752-8C>T | |
| ENST00000522053.2:n.523-8C>T | ||
| ENST00000523372.2:c.715-8C>T | ||
| ENST00000638552.1:c.347-8C>T | ENSP00000491763.1:n.347-8C>T | |
| ENST00000638660.1:c.347-8C>T | ENSP00000492869.1:n.347-8C>T | |
| ENST00000638772.1:c.632-8C>T | ENSP00000491557.1:n.632-8C>T | |
| ENST00000638782.1:n.694-8C>T | ||
| ENST00000638877.1:c.509-8C>T | ||
| ENST00000639046.1:c.23-8C>T | ENSP00000492659.1:n.23-8C>T | |
| ENST00000639111.2:c.632-8C>T | ENSP00000492125.2:n.632-8C>T | |
| ENST00000639213.2:c.632-8C>T MANE Select | ENSP00000491909.2:n.632-8C>T | |
| ENST00000639278.1:c.560-8C>T | ENSP00000491958.1:n.560-8C>T | |
| ENST00000639384.1:c.632-8C>T | ENSP00000491240.1:n.632-8C>T | |
| ENST00000639424.1:c.107+35775C>T | ENSP00000491245.1:n.107+35775C>T | |
| ENST00000639683.1:c.566-8C>T | ENSP00000492581.1:n.566-8C>T | |
| ENST00000639975.1:c.566-8C>T | ENSP00000492096.1:n.566-8C>T | |
| ENST00000640574.1:c.347-8C>T | ENSP00000491582.1:n.347-8C>T | |
| ENST00000640739.1:n.3155C>T | ||
| ENST00000640910.1:c.70-8C>T | ||
| ENST00000640985.1:c.545-8C>T | ENSP00000492293.1:n.545-8C>T | |
| ENST00000641017.1:c.632-8C>T | ENSP00000493461.1:n.632-8C>T | |
| ENST00000356592.7:c.632-8C>T | ENSP00000349000.3:n.632-8C>T | |
| ENST00000361925.8:c.632-8C>T | ENSP00000354651.4:n.632-8C>T | |
| ENST00000414552.6:c.752-8C>T | ENSP00000410732.2:n.752-8C>T | |
| ENST00000522053.1:c.347-8C>T | ENSP00000430182.1:n.347-8C>T | |
| ENST00000522990.5:c.*234-8C>T | ENSP00000430732.1:n.*234-8C>T | |
| ENST00000523372.1:c.753-8C>T | ENSP00000430124.1:n.753-8C>T | |
| NM_000816.3:c.632-8C>T | NP_000807.2:n.632-8C>T | |
| NM_198903.2:c.752-8C>T | NP_944493.2:n.752-8C>T | |
| NM_198904.2:c.632-8C>T | NP_944494.1:n.632-8C>T | |
| NM_001375339.1:c.623-8C>T | NP_001362268.1:n.623-8C>T | |
| NM_001375340.1:c.632-8C>T | NP_001362269.1:n.632-8C>T | |
| NM_001375341.1:c.632-8C>T | NP_001362270.1:n.632-8C>T | |
| NM_001375342.1:c.632-8C>T | NP_001362271.1:n.632-8C>T | |
| NM_001375343.1:c.752-8C>T | NP_001362272.1:n.752-8C>T | |
| NM_001375344.1:c.632-8C>T | NP_001362273.1:n.632-8C>T | |
| NM_001375345.1:c.566-8C>T | NP_001362274.1:n.566-8C>T | |
| NM_001375346.1:c.566-8C>T | NP_001362275.1:n.566-8C>T | |
| NM_001375347.1:c.545-8C>T | NP_001362276.1:n.545-8C>T | |
| NM_001375348.1:c.212-8C>T | NP_001362277.1:n.212-8C>T | |
| NM_001375349.1:c.347-8C>T | NP_001362278.1:n.347-8C>T | |
| NM_001375350.1:c.212-8C>T | NP_001362279.1:n.212-8C>T | |
| NM_198904.3:c.632-8C>T | NP_944494.1:n.632-8C>T | |
| NM_198904.4:c.632-8C>T MANE Select | NP_944494.1:n.632-8C>T |