Linked Data
ClinVar Variation Id:
2227202
ClinVar RCV Id:
RCV004089167
dbSNP Id:
rs770191780
ExAC:
15:75013078 G / A
gnomAD v2:
15-75013078-G-A
gnomAD v3:
15-74720737-G-A
gnomAD v4:
15-74720737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720737G>A , CM000677.2:g.74720737G>A | GRCh38 |
| NC_000015.9:g.75013078G>A , CM000677.1:g.75013078G>A | GRCh37 |
| NC_000015.8:g.72800131G>A | NCBI36 |
| NG_008431.1:g.3196G>A | |
| NG_008431.2:g.3196G>A | |
| NG_061374.1:g.9792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1291C>T MANE Select | ENSP00000369050.3:p.Arg431Trp | |
| ENST00000379727.7:c.1291C>T | ENSP00000369050.3:p.Arg431Trp | |
| ENST00000395048.6:c.1291C>T | ENSP00000378488.2:p.Arg431Trp | |
| ENST00000395049.8:c.1204C>T | ENSP00000378489.4:p.Arg402Trp | |
| ENST00000562201.5:c.*528C>T | ENSP00000455340.1:n.*528C>T | |
| ENST00000564596.5:c.*226C>T | ENSP00000457668.1:n.*226C>T | |
| ENST00000566503.1:c.508C>T | ENSP00000455846.1:p.Arg170Trp | |
| ENST00000567032.5:c.1291C>T | ENSP00000456585.1:p.Arg431Trp | |
| ENST00000569630.5:c.*880C>T | ENSP00000455051.1:n.*880C>T | |
| ENST00000612821.4:c.1207C>T | ENSP00000479744.1:p.Arg403Trp | |
| ENST00000617691.4:c.1204C>T | ENSP00000482863.1:p.Arg402Trp | |
| NM_000499.3:c.1291C>T | NP_000490.1:p.Arg431Trp | |
| XM_005254185.1:c.1291C>T | XP_005254242.1:p.Arg431Trp | |
| NM_000499.5:c.1291C>T | NP_000490.1:p.Arg431Trp | |
| NM_001319216.2:c.1204C>T | NP_001306145.1:p.Arg402Trp | |
| NM_001319217.2:c.1291C>T MANE Select | NP_001306146.1:p.Arg431Trp |