Linked Data
ClinVar Variation Id:
205556
dbSNP Id:
rs796052515
gnomAD v4:
5-162153300-C-T
COSMIC:
COSM3613599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153300C>T , CM000667.2:g.162153300C>T | GRCh38 |
| NC_000005.9:g.161580306C>T , CM000667.1:g.161580306C>T | GRCh37 |
| NC_000005.8:g.161512884C>T | NCBI36 |
| NG_009290.1:g.90659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1361C>T | ||
| ENST00000361925.9:c.1456C>T | ENSP00000354651.5:p.Arg486Trp | |
| ENST00000523372.2:c.1419C>T | ||
| ENST00000638253.1:n.614C>T | ||
| ENST00000638552.1:c.1051C>T | ENSP00000491763.1:p.Arg351Trp | |
| ENST00000638660.1:c.1075C>T | ENSP00000492869.1:p.Arg359Trp | |
| ENST00000638772.1:c.*3957C>T | ENSP00000491557.1:n.*3957C>T | |
| ENST00000638877.1:c.1237C>T | ||
| ENST00000639046.1:c.727C>T | ENSP00000492659.1:p.Arg243Trp | |
| ENST00000639111.2:c.1336C>T | ENSP00000492125.2:p.Arg446Trp | |
| ENST00000639213.2:c.1360C>T MANE Select | ENSP00000491909.2:p.Arg454Trp | |
| ENST00000639278.1:c.2023C>T | ENSP00000491958.1:n.2023C>T | |
| ENST00000639384.1:c.*1541C>T | ENSP00000491240.1:n.*1541C>T | |
| ENST00000639424.1:c.*560C>T | ENSP00000491245.1:n.*560C>T | |
| ENST00000639683.1:c.1294C>T | ENSP00000492581.1:p.Arg432Trp | |
| ENST00000639975.1:c.1270C>T | ENSP00000492096.1:p.Arg424Trp | |
| ENST00000640500.1:n.634C>T | ||
| ENST00000640739.1:n.6307C>T | ||
| ENST00000640910.1:c.798C>T | ||
| ENST00000640985.1:c.1273C>T | ENSP00000492293.1:p.Arg425Trp | |
| ENST00000641017.1:c.1429C>T | ENSP00000493461.1:p.Arg477Trp | |
| ENST00000356592.7:c.1360C>T | ENSP00000349000.3:p.Arg454Trp | |
| ENST00000361925.8:c.1336C>T | ENSP00000354651.4:p.Arg446Trp | |
| ENST00000414552.6:c.1480C>T | ENSP00000410732.2:p.Arg494Trp | |
| ENST00000522990.5:c.*938C>T | ENSP00000430732.1:n.*938C>T | |
| ENST00000523372.1:c.1457C>T | ENSP00000430124.1:n.1457C>T | |
| NM_000816.3:c.1336C>T | NP_000807.2:p.Arg446Trp | |
| NM_198903.2:c.1480C>T | NP_944493.2:p.Arg494Trp | |
| NM_198904.2:c.1360C>T | NP_944494.1:p.Arg454Trp | |
| NM_001375339.1:c.1351C>T | NP_001362268.1:p.Arg451Trp | |
| NM_001375340.1:c.*194C>T | NP_001362269.1:n.*194C>T | |
| NM_001375341.1:c.1357C>T | NP_001362270.1:p.Arg453Trp | |
| NM_001375342.1:c.1333C>T | NP_001362271.1:p.Arg445Trp | |
| NM_001375343.1:c.1456C>T | NP_001362272.1:p.Arg486Trp | |
| NM_001375344.1:c.1399C>T | NP_001362273.1:p.Arg467Trp | |
| NM_001375345.1:c.1270C>T | NP_001362274.1:p.Arg424Trp | |
| NM_001375346.1:c.1294C>T | NP_001362275.1:p.Arg432Trp | |
| NM_001375347.1:c.1273C>T | NP_001362276.1:p.Arg425Trp | |
| NM_001375348.1:c.916C>T | NP_001362277.1:p.Arg306Trp | |
| NM_001375349.1:c.1051C>T | NP_001362278.1:p.Arg351Trp | |
| NM_001375350.1:c.940C>T | NP_001362279.1:p.Arg314Trp | |
| NM_198904.3:c.1360C>T | NP_944494.1:p.Arg454Trp | |
| NM_198904.4:c.1360C>T MANE Select | NP_944494.1:p.Arg454Trp |