Linked Data
dbSNP Id:
rs1303167531
gnomAD v2:
5-161581054-G-A
gnomAD v3:
5-162154048-G-A
gnomAD v4:
5-162154048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162154048G>A , CM000667.2:g.162154048G>A | GRCh38 |
| NC_000005.9:g.161581054G>A , CM000667.1:g.161581054G>A | GRCh37 |
| NC_000005.8:g.161513632G>A | NCBI36 |
| NG_009290.1:g.91407G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.2109G>A | ||
| ENST00000361925.9:c.*680G>A | ENSP00000354651.5:n.*680G>A | |
| ENST00000638552.1:c.*680G>A | ENSP00000491763.1:n.*680G>A | |
| ENST00000638660.1:c.*680G>A | ENSP00000492869.1:n.*680G>A | |
| ENST00000638772.1:c.*4705G>A | ENSP00000491557.1:n.*4705G>A | |
| ENST00000638877.1:c.1985G>A | ||
| ENST00000639046.1:c.*680G>A | ENSP00000492659.1:n.*680G>A | |
| ENST00000639111.2:c.*680G>A | ENSP00000492125.2:n.*680G>A | |
| ENST00000639213.2:c.*680G>A MANE Select | ENSP00000491909.2:n.*680G>A | |
| ENST00000639278.1:c.2771G>A | ENSP00000491958.1:n.2771G>A | |
| ENST00000639384.1:c.*2289G>A | ENSP00000491240.1:n.*2289G>A | |
| ENST00000639424.1:c.*1308G>A | ENSP00000491245.1:n.*1308G>A | |
| ENST00000639683.1:c.*680G>A | ENSP00000492581.1:n.*680G>A | |
| ENST00000639975.1:c.*680G>A | ENSP00000492096.1:n.*680G>A | |
| ENST00000640500.1:n.1382G>A | ||
| ENST00000640739.1:n.7055G>A | ||
| ENST00000640985.1:c.*680G>A | ENSP00000492293.1:n.*680G>A | |
| ENST00000641017.1:c.2177G>A | ENSP00000493461.1:n.2177G>A | |
| ENST00000356592.7:c.*680G>A | ENSP00000349000.3:n.*680G>A | |
| ENST00000414552.6:c.*680G>A | ENSP00000410732.2:n.*680G>A | |
| NM_000816.3:c.*680G>A | NP_000807.2:n.*680G>A | |
| NM_198903.2:c.*680G>A | NP_944493.2:n.*680G>A | |
| NM_198904.2:c.*680G>A | NP_944494.1:n.*680G>A | |
| NM_001375339.1:c.*680G>A | NP_001362268.1:n.*680G>A | |
| NM_001375340.1:c.*942G>A | NP_001362269.1:n.*942G>A | |
| NM_001375341.1:c.*680G>A | NP_001362270.1:n.*680G>A | |
| NM_001375342.1:c.*680G>A | NP_001362271.1:n.*680G>A | |
| NM_001375343.1:c.*680G>A | NP_001362272.1:n.*680G>A | |
| NM_001375344.1:c.*680G>A | NP_001362273.1:n.*680G>A | |
| NM_001375345.1:c.*680G>A | NP_001362274.1:n.*680G>A | |
| NM_001375346.1:c.*680G>A | NP_001362275.1:n.*680G>A | |
| NM_001375347.1:c.*680G>A | NP_001362276.1:n.*680G>A | |
| NM_001375348.1:c.*680G>A | NP_001362277.1:n.*680G>A | |
| NM_001375349.1:c.*680G>A | NP_001362278.1:n.*680G>A | |
| NM_001375350.1:c.*680G>A | NP_001362279.1:n.*680G>A | |
| NM_198904.3:c.*680G>A | NP_944494.1:n.*680G>A | |
| NM_198904.4:c.*680G>A MANE Select | NP_944494.1:n.*680G>A |