Linked Data
ClinVar Variation Id:
66695
ClinVar RCV Id:
RCV000057142
RCV000507003
RCV001081393
RCV001160882
RCV001173051
RCV002362689
RCV003925018
dbSNP Id:
rs62636522
ExAC:
8:24813391 G / C
gnomAD v2:
8-24813391-G-C
gnomAD v3:
8-24955877-G-C
gnomAD v4:
8-24955877-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955877G>C , CM000670.2:g.24955877G>C | GRCh38 |
| NC_000008.10:g.24813391G>C , CM000670.1:g.24813391G>C | GRCh37 |
| NC_000008.9:g.24869308G>C | NCBI36 |
| NG_008492.1:g.5741C>G , LRG_259:g.5741C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.639C>G MANE Select | ENSP00000482169.2:p.Ile213Met | |
| ENST00000610854.1:c.639C>G | ENSP00000482169.1:p.Ile213Met | |
| ENST00000615973.1:n.845C>G | ||
| ENST00000619417.1:c.592+47C>G | ENSP00000483690.1:n.592+47C>G | |
| NM_006158.4:c.639C>G , LRG_259t1:c.639C>G | NP_006149.2:p.Ile213Met | |
| NM_006158.5:c.639C>G MANE Select | NP_006149.2:p.Ile213Met |