Linked Data
ClinVar Variation Id:
989833
dbSNP Id:
rs760927863
ExAC:
10:73500609 C / T
gnomAD v2:
10-73500609-C-T
gnomAD v3:
10-71740852-C-T
gnomAD v4:
10-71740852-C-T
COSMIC:
COSM3665859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740852C>T , CM000672.2:g.71740852C>T | GRCh38 |
| NC_000010.10:g.73500609C>T , CM000672.1:g.73500609C>T | GRCh37 |
| NC_000010.9:g.73170615C>T | NCBI36 |
| NG_008835.1:g.348906C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.4519C>T MANE Select | ENSP00000224721.9:p.Arg1507Trp | |
| ENST00000224721.10:c.4534C>T | ENSP00000224721.8:p.Arg1512Trp | |
| ENST00000398792.3:n.1208C>T | ||
| ENST00000622827.4:c.4519C>T | ENSP00000483211.1:p.Arg1507Trp | |
| NM_022124.5:c.4519C>T | NP_071407.4:p.Arg1507Trp | |
| XM_006717940.2:c.4714C>T | XP_006718003.1:p.Arg1572Trp | |
| XM_006717942.2:c.4648C>T | XP_006718005.1:p.Arg1550Trp | |
| XM_011540039.1:c.4711C>T | XP_011538341.1:p.Arg1571Trp | |
| XM_011540040.1:c.4708C>T | XP_011538342.1:p.Arg1570Trp | |
| XM_011540041.1:c.4654C>T | XP_011538343.1:p.Arg1552Trp | |
| XM_011540042.1:c.4714C>T | XP_011538344.1:p.Arg1572Trp | |
| XM_011540043.1:c.4714C>T | XP_011538345.1:p.Arg1572Trp | |
| XM_011540044.1:c.4579C>T | XP_011538346.1:p.Arg1527Trp | |
| XM_011540045.1:c.4714C>T | XP_011538347.1:p.Arg1572Trp | |
| XM_011540046.1:c.4174C>T | XP_011538348.1:p.Arg1392Trp | |
| XM_011540047.1:c.3532C>T | XP_011538349.1:p.Arg1178Trp | |
| XM_011540048.1:c.4714C>T | XP_011538350.1:p.Arg1572Trp | |
| XM_011540049.1:c.4714C>T | XP_011538351.1:p.Arg1572Trp | |
| XM_011540050.1:c.4714C>T | XP_011538352.1:p.Arg1572Trp | |
| XM_011540051.1:c.4714C>T | XP_011538353.1:p.Arg1572Trp | |
| XM_011540052.1:c.1042C>T | XP_011538354.1:p.Arg348Trp | |
| XM_011540053.1:c.4714C>T | XP_011538355.1:p.Arg1572Trp | |
| XR_945796.1:n.4957C>T | ||
| NM_022124.6:c.4519C>T MANE Select | NP_071407.4:p.Arg1507Trp |