Linked Data
ClinVar Variation Id:
214298
dbSNP Id:
rs141007488
ExAC:
3:180704759 G / A
gnomAD v2:
3-180704759-G-A
gnomAD v3:
3-180986971-G-A
gnomAD v4:
3-180986971-G-A
COSMIC:
COSM3206370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180986971G>A , CM000665.2:g.180986971G>A | GRCh38 |
| NC_000003.11:g.180704759G>A , CM000665.1:g.180704759G>A | GRCh37 |
| NC_000003.10:g.182187453G>A | NCBI36 |
| NG_022933.1:g.7804C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478723.6:n.252C>T | ||
| ENST00000482363.2:n.1348C>T | ||
| ENST00000485675.2:n.1342C>T | ||
| ENST00000688055.1:c.181C>T | ENSP00000508688.1:p.Arg61Trp | |
| ENST00000382564.8:c.181C>T MANE Select | ENSP00000372005.2:p.Arg61Trp | |
| ENST00000643241.1:c.106C>T | ENSP00000496401.1:p.Arg36Trp | |
| ENST00000646965.1:c.-46-975C>T | ENSP00000496456.1:n.-46-975C>T | |
| ENST00000382564.6:c.181C>T | ENSP00000372005.2:p.Arg61Trp | |
| ENST00000469657.5:c.130-975C>T | ENSP00000418058.1:n.130-975C>T | |
| ENST00000478723.5:n.320C>T | ||
| ENST00000479269.5:c.106C>T | ENSP00000419191.1:p.Arg36Trp | |
| ENST00000485675.1:n.1254C>T | ||
| ENST00000486355.1:c.154+27C>T | ENSP00000419991.1:n.154+27C>T | |
| ENST00000491873.5:c.106C>T | ENSP00000420767.1:p.Arg36Trp | |
| NM_001190233.1:c.106C>T | NP_001177162.1:p.Arg36Trp | |
| NM_145261.3:c.181C>T | NP_660304.1:p.Arg61Trp | |
| NR_033721.1:n.301C>T | ||
| NR_033722.1:n.302-975C>T | ||
| NR_033723.1:n.326+27C>T | ||
| NR_046073.1:n.176-975C>T | ||
| NM_145261.4:c.181C>T MANE Select | NP_660304.1:p.Arg61Trp | |
| NM_001190233.2:c.106C>T | NP_001177162.1:p.Arg36Trp | |
| NR_033721.2:n.263C>T | ||
| NR_033722.2:n.264-975C>T |