Linked Data
dbSNP Id:
rs751127136
ExAC:
5:161580375 G / A
gnomAD v2:
5-161580375-G-A
gnomAD v4:
5-162153369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153369G>A , CM000667.2:g.162153369G>A | GRCh38 |
| NC_000005.9:g.161580375G>A , CM000667.1:g.161580375G>A | GRCh37 |
| NC_000005.8:g.161512953G>A | NCBI36 |
| NG_009290.1:g.90728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1430G>A | ||
| ENST00000361925.9:c.*1G>A | ENSP00000354651.5:n.*1G>A | |
| ENST00000523372.2:c.1488G>A | ||
| ENST00000638253.1:n.683G>A | ||
| ENST00000638552.1:c.*1G>A | ENSP00000491763.1:n.*1G>A | |
| ENST00000638660.1:c.*1G>A | ENSP00000492869.1:n.*1G>A | |
| ENST00000638772.1:c.*4026G>A | ENSP00000491557.1:n.*4026G>A | |
| ENST00000638877.1:c.1306G>A | ||
| ENST00000639046.1:c.*1G>A | ENSP00000492659.1:n.*1G>A | |
| ENST00000639111.2:c.*1G>A | ENSP00000492125.2:n.*1G>A | |
| ENST00000639213.2:c.*1G>A MANE Select | ENSP00000491909.2:n.*1G>A | |
| ENST00000639278.1:c.2092G>A | ENSP00000491958.1:n.2092G>A | |
| ENST00000639384.1:c.*1610G>A | ENSP00000491240.1:n.*1610G>A | |
| ENST00000639424.1:c.*629G>A | ENSP00000491245.1:n.*629G>A | |
| ENST00000639683.1:c.*1G>A | ENSP00000492581.1:n.*1G>A | |
| ENST00000639975.1:c.*1G>A | ENSP00000492096.1:n.*1G>A | |
| ENST00000640500.1:n.703G>A | ||
| ENST00000640739.1:n.6376G>A | ||
| ENST00000640910.1:c.867G>A | ||
| ENST00000640985.1:c.*1G>A | ENSP00000492293.1:n.*1G>A | |
| ENST00000641017.1:c.1498G>A | ENSP00000493461.1:n.1498G>A | |
| ENST00000356592.7:c.*1G>A | ENSP00000349000.3:n.*1G>A | |
| ENST00000361925.8:c.*1G>A | ENSP00000354651.4:n.*1G>A | |
| ENST00000414552.6:c.*1G>A | ENSP00000410732.2:n.*1G>A | |
| ENST00000522990.5:c.*1007G>A | ENSP00000430732.1:n.*1007G>A | |
| ENST00000523372.1:c.1526G>A | ENSP00000430124.1:n.1526G>A | |
| NM_000816.3:c.*1G>A | NP_000807.2:n.*1G>A | |
| NM_198903.2:c.*1G>A | NP_944493.2:n.*1G>A | |
| NM_198904.2:c.*1G>A | NP_944494.1:n.*1G>A | |
| NM_001375339.1:c.*1G>A | NP_001362268.1:n.*1G>A | |
| NM_001375340.1:c.*263G>A | NP_001362269.1:n.*263G>A | |
| NM_001375341.1:c.*1G>A | NP_001362270.1:n.*1G>A | |
| NM_001375342.1:c.*1G>A | NP_001362271.1:n.*1G>A | |
| NM_001375343.1:c.*1G>A | NP_001362272.1:n.*1G>A | |
| NM_001375344.1:c.*1G>A | NP_001362273.1:n.*1G>A | |
| NM_001375345.1:c.*1G>A | NP_001362274.1:n.*1G>A | |
| NM_001375346.1:c.*1G>A | NP_001362275.1:n.*1G>A | |
| NM_001375347.1:c.*1G>A | NP_001362276.1:n.*1G>A | |
| NM_001375348.1:c.*1G>A | NP_001362277.1:n.*1G>A | |
| NM_001375349.1:c.*1G>A | NP_001362278.1:n.*1G>A | |
| NM_001375350.1:c.*1G>A | NP_001362279.1:n.*1G>A | |
| NM_198904.3:c.*1G>A | NP_944494.1:n.*1G>A | |
| NM_198904.4:c.*1G>A MANE Select | NP_944494.1:n.*1G>A |