Linked Data
dbSNP Id:
rs1281375956
gnomAD v2:
5-161576073-T-A
gnomAD v3:
5-162149067-T-A
gnomAD v4:
5-162149067-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149067T>A , CM000667.2:g.162149067T>A | GRCh38 |
| NC_000005.9:g.161576073T>A , CM000667.1:g.161576073T>A | GRCh37 |
| NC_000005.8:g.161508651T>A | NCBI36 |
| NG_009290.1:g.86426T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.924-41T>A | ||
| ENST00000361925.9:c.1043-41T>A | ENSP00000354651.5:n.1043-41T>A | |
| ENST00000522053.2:n.814-41T>A | ||
| ENST00000523372.2:c.1006-41T>A | ||
| ENST00000638253.1:n.177-41T>A | ||
| ENST00000638552.1:c.638-41T>A | ENSP00000491763.1:n.638-41T>A | |
| ENST00000638660.1:c.638-41T>A | ENSP00000492869.1:n.638-41T>A | |
| ENST00000638772.1:c.923-41T>A | ENSP00000491557.1:n.923-41T>A | |
| ENST00000638877.1:c.800-41T>A | ||
| ENST00000639046.1:c.314-41T>A | ENSP00000492659.1:n.314-41T>A | |
| ENST00000639111.2:c.923-41T>A | ENSP00000492125.2:n.923-41T>A | |
| ENST00000639213.2:c.923-41T>A MANE Select | ENSP00000491909.2:n.923-41T>A | |
| ENST00000639278.1:c.851-41T>A | ENSP00000491958.1:n.851-41T>A | |
| ENST00000639384.1:c.923-41T>A | ENSP00000491240.1:n.923-41T>A | |
| ENST00000639424.1:c.*123-41T>A | ENSP00000491245.1:n.*123-41T>A | |
| ENST00000639683.1:c.857-41T>A | ENSP00000492581.1:n.857-41T>A | |
| ENST00000639975.1:c.857-41T>A | ENSP00000492096.1:n.857-41T>A | |
| ENST00000640500.1:n.221-41T>A | ||
| ENST00000640574.1:c.638-41T>A | ENSP00000491582.1:n.638-41T>A | |
| ENST00000640739.1:n.3454-41T>A | ||
| ENST00000640910.1:c.361-41T>A | ||
| ENST00000640985.1:c.836-41T>A | ENSP00000492293.1:n.836-41T>A | |
| ENST00000641017.1:c.923-41T>A | ENSP00000493461.1:n.923-41T>A | |
| ENST00000356592.7:c.923-41T>A | ENSP00000349000.3:n.923-41T>A | |
| ENST00000361925.8:c.923-41T>A | ENSP00000354651.4:n.923-41T>A | |
| ENST00000414552.6:c.1043-41T>A | ENSP00000410732.2:n.1043-41T>A | |
| ENST00000522053.1:c.638-41T>A | ENSP00000430182.1:n.638-41T>A | |
| ENST00000522990.5:c.*525-41T>A | ENSP00000430732.1:n.*525-41T>A | |
| ENST00000523372.1:c.1044-41T>A | ENSP00000430124.1:n.1044-41T>A | |
| NM_000816.3:c.923-41T>A | NP_000807.2:n.923-41T>A | |
| NM_198903.2:c.1043-41T>A | NP_944493.2:n.1043-41T>A | |
| NM_198904.2:c.923-41T>A | NP_944494.1:n.923-41T>A | |
| NM_001375339.1:c.914-41T>A | NP_001362268.1:n.914-41T>A | |
| NM_001375340.1:c.923-2663T>A | NP_001362269.1:n.923-2663T>A | |
| NM_001375341.1:c.920-41T>A | NP_001362270.1:n.920-41T>A | |
| NM_001375342.1:c.920-41T>A | NP_001362271.1:n.920-41T>A | |
| NM_001375343.1:c.1043-41T>A | NP_001362272.1:n.1043-41T>A | |
| NM_001375344.1:c.962-41T>A | NP_001362273.1:n.962-41T>A | |
| NM_001375345.1:c.857-41T>A | NP_001362274.1:n.857-41T>A | |
| NM_001375346.1:c.857-41T>A | NP_001362275.1:n.857-41T>A | |
| NM_001375347.1:c.836-41T>A | NP_001362276.1:n.836-41T>A | |
| NM_001375348.1:c.503-41T>A | NP_001362277.1:n.503-41T>A | |
| NM_001375349.1:c.638-41T>A | NP_001362278.1:n.638-41T>A | |
| NM_001375350.1:c.503-41T>A | NP_001362279.1:n.503-41T>A | |
| NM_198904.3:c.923-41T>A | NP_944494.1:n.923-41T>A | |
| NM_198904.4:c.923-41T>A MANE Select | NP_944494.1:n.923-41T>A |