Linked Data
dbSNP Id:
rs571292268
ExAC:
15:68628046 G / A
gnomAD v2:
15-68628046-G-A
gnomAD v3:
15-68335708-G-A
gnomAD v4:
15-68335708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335708G>A , CM000677.2:g.68335708G>A | GRCh38 |
| NC_000015.9:g.68628046G>A , CM000677.1:g.68628046G>A | GRCh37 |
| NC_000015.8:g.66415100G>A | NCBI36 |
| NG_046911.1:g.101453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1414C>T MANE Select | ENSP00000327290.7:p.Arg472Trp | |
| ENST00000315757.8:c.1414C>T | ENSP00000327290.7:p.Arg472Trp | |
| ENST00000423218.6:c.1414C>T | ENSP00000403392.2:p.Arg472Trp | |
| ENST00000566429.1:n.303C>T | ||
| ENST00000569346.5:n.393C>T | ||
| NM_001004439.1:c.1414C>T | NP_001004439.1:p.Arg472Trp | |
| XM_005254228.2:c.1108C>T | XP_005254285.1:p.Arg370Trp | |
| XM_011521363.1:c.1207C>T | XP_011519665.1:p.Arg403Trp | |
| XM_005254228.3:c.1108C>T | XP_005254285.1:p.Arg370Trp | |
| XM_011521363.2:c.1207C>T | XP_011519665.1:p.Arg403Trp | |
| NM_001004439.2:c.1414C>T MANE Select | NP_001004439.1:p.Arg472Trp |