Linked Data
ClinVar Variation Id:
238621
dbSNP Id:
rs199825346
ExAC:
5:54516613 G / A
gnomAD v2:
5-54516613-G-A
gnomAD v3:
5-55220785-G-A
gnomAD v4:
5-55220785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55220785G>A , CM000667.2:g.55220785G>A | GRCh38 |
| NC_000005.9:g.54516613G>A , CM000667.1:g.54516613G>A | GRCh37 |
| NC_000005.8:g.54552370G>A | NCBI36 |
| NG_051620.1:g.11531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513312.3:c.739C>T MANE Select | ENSP00000426359.1:p.Arg247Trp | |
| ENST00000513312.1:c.739C>T | ENSP00000426359.1:p.Arg247Trp | |
| ENST00000513468.5:c.*203C>T | ENSP00000422165.1:n.*203C>T | |
| NM_001190787.1:c.739C>T | NP_001177716.1:p.Arg247Trp | |
| XM_017009439.2:c.346C>T | XP_016864928.1:p.Arg116Trp | |
| NM_001190787.3:c.739C>T MANE Select | NP_001177716.1:p.Arg247Trp |