Linked Data
dbSNP Id:
rs528036202
gnomAD v2:
5-161580118-G-T
gnomAD v4:
5-162153112-G-T
COSMIC:
COSM5807251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153112G>T , CM000667.2:g.162153112G>T | GRCh38 |
| NC_000005.9:g.161580118G>T , CM000667.1:g.161580118G>T | GRCh37 |
| NC_000005.8:g.161512696G>T | NCBI36 |
| NG_009290.1:g.90471G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1173G>T | ||
| ENST00000361925.9:c.1268G>T | ENSP00000354651.5:p.Arg423Leu | |
| ENST00000523372.2:c.1231G>T | ||
| ENST00000638253.1:n.426G>T | ||
| ENST00000638552.1:c.863G>T | ENSP00000491763.1:p.Arg288Leu | |
| ENST00000638660.1:c.887G>T | ENSP00000492869.1:p.Arg296Leu | |
| ENST00000638772.1:c.*3769G>T | ENSP00000491557.1:n.*3769G>T | |
| ENST00000638877.1:c.1049G>T | ||
| ENST00000639046.1:c.539G>T | ENSP00000492659.1:p.Arg180Leu | |
| ENST00000639111.2:c.1148G>T | ENSP00000492125.2:p.Arg383Leu | |
| ENST00000639213.2:c.1172G>T MANE Select | ENSP00000491909.2:p.Arg391Leu | |
| ENST00000639278.1:c.1835G>T | ENSP00000491958.1:n.1835G>T | |
| ENST00000639384.1:c.*1353G>T | ENSP00000491240.1:n.*1353G>T | |
| ENST00000639424.1:c.*372G>T | ENSP00000491245.1:n.*372G>T | |
| ENST00000639683.1:c.1106G>T | ENSP00000492581.1:p.Arg369Leu | |
| ENST00000639975.1:c.1082G>T | ENSP00000492096.1:p.Arg361Leu | |
| ENST00000640500.1:n.446G>T | ||
| ENST00000640739.1:n.6119G>T | ||
| ENST00000640910.1:c.610G>T | ||
| ENST00000640985.1:c.1085G>T | ENSP00000492293.1:p.Arg362Leu | |
| ENST00000641017.1:c.1241G>T | ENSP00000493461.1:p.Arg414Leu | |
| ENST00000356592.7:c.1172G>T | ENSP00000349000.3:p.Arg391Leu | |
| ENST00000361925.8:c.1148G>T | ENSP00000354651.4:p.Arg383Leu | |
| ENST00000414552.6:c.1292G>T | ENSP00000410732.2:p.Arg431Leu | |
| ENST00000522990.5:c.*750G>T | ENSP00000430732.1:n.*750G>T | |
| ENST00000523372.1:c.1269G>T | ENSP00000430124.1:n.1269G>T | |
| NM_000816.3:c.1148G>T | NP_000807.2:p.Arg383Leu | |
| NM_198903.2:c.1292G>T | NP_944493.2:p.Arg431Leu | |
| NM_198904.2:c.1172G>T | NP_944494.1:p.Arg391Leu | |
| NM_001375339.1:c.1163G>T | NP_001362268.1:p.Arg388Leu | |
| NM_001375340.1:c.*6G>T | NP_001362269.1:n.*6G>T | |
| NM_001375341.1:c.1169G>T | NP_001362270.1:p.Arg390Leu | |
| NM_001375342.1:c.1145G>T | NP_001362271.1:p.Arg382Leu | |
| NM_001375343.1:c.1268G>T | NP_001362272.1:p.Arg423Leu | |
| NM_001375344.1:c.1211G>T | NP_001362273.1:p.Arg404Leu | |
| NM_001375345.1:c.1082G>T | NP_001362274.1:p.Arg361Leu | |
| NM_001375346.1:c.1106G>T | NP_001362275.1:p.Arg369Leu | |
| NM_001375347.1:c.1085G>T | NP_001362276.1:p.Arg362Leu | |
| NM_001375348.1:c.728G>T | NP_001362277.1:p.Arg243Leu | |
| NM_001375349.1:c.863G>T | NP_001362278.1:p.Arg288Leu | |
| NM_001375350.1:c.752G>T | NP_001362279.1:p.Arg251Leu | |
| NM_198904.3:c.1172G>T | NP_944494.1:p.Arg391Leu | |
| NM_198904.4:c.1172G>T MANE Select | NP_944494.1:p.Arg391Leu |