Linked Data
ClinVar Variation Id:
370925
dbSNP Id:
rs781584590
ExAC:
19:36340024 C / T
gnomAD v2:
19-36340024-C-T
gnomAD v4:
19-35849122-C-T
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849122C>T , CM000681.2:g.35849122C>T | GRCh38 |
| NC_000019.9:g.36340024C>T , CM000681.1:g.36340024C>T | GRCh37 |
| NC_000019.8:g.41031864C>T | NCBI36 |
| NG_013356.2:g.25166G>A , LRG_693:g.25166G>A | |
| NG_051206.1:g.2488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.866G>A MANE Select | ENSP00000368190.4:p.Trp289Ter | |
| ENST00000353632.6:c.866G>A | ENSP00000343634.5:p.Trp289Ter | |
| ENST00000378910.9:c.866G>A | ENSP00000368190.4:p.Trp289Ter | |
| NM_004646.3:c.866G>A , LRG_693t1:c.866G>A | NP_004637.1:p.Trp289Ter | |
| NM_004646.4:c.866G>A MANE Select | NP_004637.1:p.Trp289Ter |