Linked Data
dbSNP Id:
rs754658882
ExAC:
5:161580385 G / A
gnomAD v2:
5-161580385-G-A
gnomAD v4:
5-162153379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153379G>A , CM000667.2:g.162153379G>A | GRCh38 |
| NC_000005.9:g.161580385G>A , CM000667.1:g.161580385G>A | GRCh37 |
| NC_000005.8:g.161512963G>A | NCBI36 |
| NG_009290.1:g.90738G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1440G>A | ||
| ENST00000361925.9:c.*11G>A | ENSP00000354651.5:n.*11G>A | |
| ENST00000523372.2:c.1498G>A | ||
| ENST00000638253.1:n.693G>A | ||
| ENST00000638552.1:c.*11G>A | ENSP00000491763.1:n.*11G>A | |
| ENST00000638660.1:c.*11G>A | ENSP00000492869.1:n.*11G>A | |
| ENST00000638772.1:c.*4036G>A | ENSP00000491557.1:n.*4036G>A | |
| ENST00000638877.1:c.1316G>A | ||
| ENST00000639046.1:c.*11G>A | ENSP00000492659.1:n.*11G>A | |
| ENST00000639111.2:c.*11G>A | ENSP00000492125.2:n.*11G>A | |
| ENST00000639213.2:c.*11G>A MANE Select | ENSP00000491909.2:n.*11G>A | |
| ENST00000639278.1:c.2102G>A | ENSP00000491958.1:n.2102G>A | |
| ENST00000639384.1:c.*1620G>A | ENSP00000491240.1:n.*1620G>A | |
| ENST00000639424.1:c.*639G>A | ENSP00000491245.1:n.*639G>A | |
| ENST00000639683.1:c.*11G>A | ENSP00000492581.1:n.*11G>A | |
| ENST00000639975.1:c.*11G>A | ENSP00000492096.1:n.*11G>A | |
| ENST00000640500.1:n.713G>A | ||
| ENST00000640739.1:n.6386G>A | ||
| ENST00000640910.1:c.877G>A | ||
| ENST00000640985.1:c.*11G>A | ENSP00000492293.1:n.*11G>A | |
| ENST00000641017.1:c.1508G>A | ENSP00000493461.1:n.1508G>A | |
| ENST00000356592.7:c.*11G>A | ENSP00000349000.3:n.*11G>A | |
| ENST00000361925.8:c.*11G>A | ENSP00000354651.4:n.*11G>A | |
| ENST00000414552.6:c.*11G>A | ENSP00000410732.2:n.*11G>A | |
| ENST00000522990.5:c.*1017G>A | ENSP00000430732.1:n.*1017G>A | |
| ENST00000523372.1:c.1536G>A | ENSP00000430124.1:n.1536G>A | |
| NM_000816.3:c.*11G>A | NP_000807.2:n.*11G>A | |
| NM_198903.2:c.*11G>A | NP_944493.2:n.*11G>A | |
| NM_198904.2:c.*11G>A | NP_944494.1:n.*11G>A | |
| NM_001375339.1:c.*11G>A | NP_001362268.1:n.*11G>A | |
| NM_001375340.1:c.*273G>A | NP_001362269.1:n.*273G>A | |
| NM_001375341.1:c.*11G>A | NP_001362270.1:n.*11G>A | |
| NM_001375342.1:c.*11G>A | NP_001362271.1:n.*11G>A | |
| NM_001375343.1:c.*11G>A | NP_001362272.1:n.*11G>A | |
| NM_001375344.1:c.*11G>A | NP_001362273.1:n.*11G>A | |
| NM_001375345.1:c.*11G>A | NP_001362274.1:n.*11G>A | |
| NM_001375346.1:c.*11G>A | NP_001362275.1:n.*11G>A | |
| NM_001375347.1:c.*11G>A | NP_001362276.1:n.*11G>A | |
| NM_001375348.1:c.*11G>A | NP_001362277.1:n.*11G>A | |
| NM_001375349.1:c.*11G>A | NP_001362278.1:n.*11G>A | |
| NM_001375350.1:c.*11G>A | NP_001362279.1:n.*11G>A | |
| NM_198904.3:c.*11G>A | NP_944494.1:n.*11G>A | |
| NM_198904.4:c.*11G>A MANE Select | NP_944494.1:n.*11G>A |