Linked Data
dbSNP Id:
rs759598497
ExAC:
5:161580252 G / A
gnomAD v3:
5-162153246-G-A
gnomAD v4:
5-162153246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153246G>A , CM000667.2:g.162153246G>A | GRCh38 |
| NC_000005.9:g.161580252G>A , CM000667.1:g.161580252G>A | GRCh37 |
| NC_000005.8:g.161512830G>A | NCBI36 |
| NG_009290.1:g.90605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1307G>A | ||
| ENST00000361925.9:c.1402G>A | ENSP00000354651.5:p.Ala468Thr | |
| ENST00000523372.2:c.1365G>A | ||
| ENST00000638253.1:n.560G>A | ||
| ENST00000638552.1:c.997G>A | ENSP00000491763.1:p.Ala333Thr | |
| ENST00000638660.1:c.1021G>A | ENSP00000492869.1:p.Ala341Thr | |
| ENST00000638772.1:c.*3903G>A | ENSP00000491557.1:n.*3903G>A | |
| ENST00000638877.1:c.1183G>A | ||
| ENST00000639046.1:c.673G>A | ENSP00000492659.1:p.Ala225Thr | |
| ENST00000639111.2:c.1282G>A | ENSP00000492125.2:p.Ala428Thr | |
| ENST00000639213.2:c.1306G>A MANE Select | ENSP00000491909.2:p.Ala436Thr | |
| ENST00000639278.1:c.1969G>A | ENSP00000491958.1:n.1969G>A | |
| ENST00000639384.1:c.*1487G>A | ENSP00000491240.1:n.*1487G>A | |
| ENST00000639424.1:c.*506G>A | ENSP00000491245.1:n.*506G>A | |
| ENST00000639683.1:c.1240G>A | ENSP00000492581.1:p.Ala414Thr | |
| ENST00000639975.1:c.1216G>A | ENSP00000492096.1:p.Ala406Thr | |
| ENST00000640500.1:n.580G>A | ||
| ENST00000640739.1:n.6253G>A | ||
| ENST00000640910.1:c.744G>A | ||
| ENST00000640985.1:c.1219G>A | ENSP00000492293.1:p.Ala407Thr | |
| ENST00000641017.1:c.1375G>A | ENSP00000493461.1:p.Ala459Thr | |
| ENST00000356592.7:c.1306G>A | ENSP00000349000.3:p.Ala436Thr | |
| ENST00000361925.8:c.1282G>A | ENSP00000354651.4:p.Ala428Thr | |
| ENST00000414552.6:c.1426G>A | ENSP00000410732.2:p.Ala476Thr | |
| ENST00000522990.5:c.*884G>A | ENSP00000430732.1:n.*884G>A | |
| ENST00000523372.1:c.1403G>A | ENSP00000430124.1:n.1403G>A | |
| NM_000816.3:c.1282G>A | NP_000807.2:p.Ala428Thr | |
| NM_198903.2:c.1426G>A | NP_944493.2:p.Ala476Thr | |
| NM_198904.2:c.1306G>A | NP_944494.1:p.Ala436Thr | |
| NM_001375339.1:c.1297G>A | NP_001362268.1:p.Ala433Thr | |
| NM_001375340.1:c.*140G>A | NP_001362269.1:n.*140G>A | |
| NM_001375341.1:c.1303G>A | NP_001362270.1:p.Ala435Thr | |
| NM_001375342.1:c.1279G>A | NP_001362271.1:p.Ala427Thr | |
| NM_001375343.1:c.1402G>A | NP_001362272.1:p.Ala468Thr | |
| NM_001375344.1:c.1345G>A | NP_001362273.1:p.Ala449Thr | |
| NM_001375345.1:c.1216G>A | NP_001362274.1:p.Ala406Thr | |
| NM_001375346.1:c.1240G>A | NP_001362275.1:p.Ala414Thr | |
| NM_001375347.1:c.1219G>A | NP_001362276.1:p.Ala407Thr | |
| NM_001375348.1:c.862G>A | NP_001362277.1:p.Ala288Thr | |
| NM_001375349.1:c.997G>A | NP_001362278.1:p.Ala333Thr | |
| NM_001375350.1:c.886G>A | NP_001362279.1:p.Ala296Thr | |
| NM_198904.3:c.1306G>A | NP_944494.1:p.Ala436Thr | |
| NM_198904.4:c.1306G>A MANE Select | NP_944494.1:p.Ala436Thr |