Linked Data
ClinVar Variation Id:
4785
ClinVar RCV Id:
RCV000005051
dbSNP Id:
rs104894644
gnomAD v4:
17-43755612-C-T
PubMed:
PMID:11181578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755612C>T , CM000679.2:g.43755612C>T | GRCh38 |
| NC_000017.10:g.41832980C>T , CM000679.1:g.41832980C>T | GRCh37 |
| NC_000017.9:g.39188506C>T | NCBI36 |
| NG_008078.2:g.8177G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301691.3:c.372G>A MANE Select | ENSP00000301691.1:p.Trp124Ter | |
| ENST00000301691.2:c.372G>A | ENSP00000301691.1:p.Trp124Ter | |
| NM_025237.2:c.372G>A | NP_079513.1:p.Trp124Ter | |
| NM_025237.3:c.372G>A MANE Select | NP_079513.1:p.Trp124Ter |