Linked Data
dbSNP Id:
rs760787515
ExAC:
1:236882229 C / T
gnomAD v2:
1-236882229-C-T
gnomAD v3:
1-236718929-C-T
gnomAD v4:
1-236718929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236718929C>T , CM000663.2:g.236718929C>T | GRCh38 |
| NC_000001.10:g.236882229C>T , CM000663.1:g.236882229C>T | GRCh37 |
| NC_000001.9:g.234948852C>T | NCBI36 |
| NG_009081.1:g.37460C>T | |
| NG_009081.2:g.59789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.277C>T | ENSP00000443495.1:p.Arg93Trp | |
| ENST00000492634.7:n.372C>T | ||
| ENST00000494762.2:n.26C>T | ||
| ENST00000682015.1:c.277C>T | ENSP00000506961.1:p.Arg93Trp | |
| ENST00000682692.1:n.277C>T | ||
| ENST00000682966.1:n.276C>T | ||
| ENST00000683075.1:n.216C>T | ||
| ENST00000683111.1:c.220C>T | ENSP00000507913.1:p.Arg74Trp | |
| ENST00000684050.1:n.312C>T | ||
| ENST00000684286.1:n.345C>T | ||
| ENST00000684502.1:n.312C>T | ||
| ENST00000366578.6:c.277C>T MANE Select | ENSP00000355537.4:p.Arg93Trp | |
| ENST00000492634.6:n.372C>T | ||
| ENST00000542672.6:c.277C>T | ENSP00000443495.1:p.Arg93Trp | |
| ENST00000651091.1:c.220C>T | ENSP00000498677.1:p.Arg74Trp | |
| ENST00000651187.1:c.61C>T | ENSP00000498348.1:p.Arg21Trp | |
| ENST00000651275.1:c.262C>T | ENSP00000498926.1:p.Arg88Trp | |
| ENST00000651786.1:c.277C>T | ENSP00000498364.1:p.Arg93Trp | |
| ENST00000652096.1:c.277C>T | ENSP00000498896.1:p.Arg93Trp | |
| ENST00000366578.5:c.277C>T | ENSP00000355537.4:p.Arg93Trp | |
| ENST00000492634.5:n.424C>T | ||
| ENST00000542672.5:c.277C>T | ENSP00000443495.1:p.Arg93Trp | |
| ENST00000546208.5:c.-545C>T | ENSP00000438384.2:n.-545C>T | |
| NM_001103.3:c.277C>T | NP_001094.1:p.Arg93Trp | |
| NM_001278343.1:c.277C>T | NP_001265272.1:p.Arg93Trp | |
| NM_001278344.1:c.-545C>T | NP_001265273.1:n.-545C>T | |
| NM_001278343.2:c.277C>T | NP_001265272.1:p.Arg93Trp | |
| NM_001103.4:c.277C>T MANE Select | NP_001094.1:p.Arg93Trp | |
| NM_001278344.2:c.-545C>T | NP_001265273.1:n.-545C>T |