Linked Data
ClinVar Variation Id:
324546
ClinVar RCV Id:
RCV000288041
RCV000291434
RCV000345383
RCV000348654
RCV000383669
RCV000945786
RCV001288735
dbSNP Id:
rs766463226
ExAC:
17:62043584 C / T
gnomAD v2:
17-62043584-C-T
gnomAD v3:
17-63966224-C-T
gnomAD v4:
17-63966224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63966224C>T , CM000679.2:g.63966224C>T | GRCh38 |
| NC_000017.10:g.62043584C>T , CM000679.1:g.62043584C>T | GRCh37 |
| NC_000017.9:g.59397316C>T | NCBI36 |
| NG_011699.1:g.11695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1120G>A MANE Select | ENSP00000396320.1:p.Glu374Lys | |
| ENST00000578147.5:c.1120G>A | ENSP00000463963.1:p.Glu374Lys | |
| NM_000334.4:c.1120G>A MANE Select | NP_000325.4:p.Glu374Lys | |
| XM_005257566.3:c.1120G>A | XP_005257623.1:p.Glu374Lys | |
| XR_934910.1:n.277-281C>T | ||
| XR_001752969.1:n.1554-281C>T | ||
| XR_001752970.1:n.506-281C>T | ||
| XR_934910.2:n.1429-281C>T |