Linked Data
ClinVar Variation Id:
8991
dbSNP Id:
rs104894087
gnomAD v4:
8-38144382-C-T
PubMed:
PMID:10323391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144382C>T , CM000670.2:g.38144382C>T | GRCh38 |
| NC_000008.10:g.38001900C>T , CM000670.1:g.38001900C>T | GRCh37 |
| NC_000008.9:g.38121057C>T | NCBI36 |
| NG_011827.1:g.11701G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.749G>A MANE Select | ENSP00000276449.3:p.Trp250Ter | |
| ENST00000276449.8:c.749G>A | ENSP00000276449.3:p.Trp250Ter | |
| ENST00000520114.1:n.2718G>A | ||
| ENST00000522050.1:c.591G>A | ||
| NM_000349.2:c.749G>A | NP_000340.2:p.Trp250Ter | |
| XM_006716392.1:c.655G>A | XP_006716455.1:p.Gly219Ser | |
| NM_000349.3:c.749G>A MANE Select | NP_000340.2:p.Trp250Ter |