Linked Data
ClinVar Variation Id:
437939
ClinVar RCV Id:
RCV000505127
dbSNP Id:
rs1553681348
gnomAD v4:
3-101243905-C-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101243905C>T , CM000665.2:g.101243905C>T | GRCh38 |
| NC_000003.11:g.100962749C>T , CM000665.1:g.100962749C>T | GRCh37 |
| NC_000003.10:g.102445439C>T | NCBI36 |
| NG_028284.1:g.81671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.2426G>A MANE Select | ENSP00000193391.6:p.Trp809Ter | |
| ENST00000193391.7:c.2426G>A | ENSP00000193391.6:p.Trp809Ter | |
| NM_016247.3:c.2426G>A | NP_057331.2:p.Trp809Ter | |
| XM_011512871.1:c.2132G>A | XP_011511173.1:p.Trp711Ter | |
| XM_011512872.1:c.2015G>A | XP_011511174.1:p.Trp672Ter | |
| NM_016247.4:c.2426G>A MANE Select | NP_057331.2:p.Trp809Ter |