Linked Data
ClinVar Variation Id:
1932678
ClinVar RCV Id:
RCV002635445
dbSNP Id:
rs755860942
ExAC:
8:145152183 C / T
gnomAD v2:
8-145152183-C-T
gnomAD v3:
8-144097280-C-T
gnomAD v4:
8-144097280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144097280C>T , CM000670.2:g.144097280C>T | GRCh38 |
| NC_000008.10:g.145152183C>T , CM000670.1:g.145152183C>T | GRCh37 |
| NC_000008.9:g.145224171C>T | NCBI36 |
| NG_033872.1:g.7246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.922C>T MANE Select | ENSP00000317159.4:p.Arg308Trp | |
| ENST00000318911.4:c.922C>T | ENSP00000317159.4:p.Arg308Trp | |
| ENST00000533444.1:n.1587C>T | ||
| NM_001916.4:c.922C>T | NP_001907.2:p.Arg308Trp | |
| XM_017013102.1:c.842C>T | XP_016868591.1:p.Ala281Val | |
| XM_024447072.1:c.745C>T | XP_024302840.1:p.Arg249Trp | |
| NM_001916.5:c.922C>T MANE Select | NP_001907.3:p.Arg308Trp |