Linked Data
dbSNP Id:
rs780389624
ExAC:
3:50380361 G / A
gnomAD v2:
3-50380361-G-A
gnomAD v3:
3-50342930-G-A
gnomAD v4:
3-50342930-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342930G>A , CM000665.2:g.50342930G>A | GRCh38 |
| NC_000003.11:g.50380361G>A , CM000665.1:g.50380361G>A | GRCh37 |
| NC_000003.10:g.50355365G>A | NCBI36 |
| NG_023270.1:g.3007C>T | |
| NG_042828.1:g.7817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.688C>T MANE Select | ENSP00000231749.3:p.Arg230Trp | |
| ENST00000231749.7:c.688C>T | ENSP00000231749.3:p.Arg230Trp | |
| ENST00000360165.7:c.599+188C>T | ENSP00000353289.3:n.599+188C>T | |
| ENST00000442887.1:c.559C>T | ENSP00000393687.1:p.Arg187Trp | |
| ENST00000443080.5:c.*440C>T | ENSP00000415661.1:n.*440C>T | |
| ENST00000475688.1:n.239C>T | ||
| NM_001308379.1:c.599+188C>T | NP_001295308.1:n.599+188C>T | |
| NM_015896.2:c.688C>T | NP_056980.2:p.Arg230Trp | |
| NM_015896.3:c.688C>T | NP_056980.2:p.Arg230Trp | |
| XM_005265216.2:c.451C>T | XP_005265273.1:p.Arg151Trp | |
| XM_005265216.3:c.451C>T | XP_005265273.1:p.Arg151Trp | |
| NM_015896.4:c.688C>T MANE Select | NP_056980.2:p.Arg230Trp | |
| NM_001308379.2:c.599+188C>T | NP_001295308.1:n.599+188C>T |