Linked Data
ClinVar Variation Id:
2354677
ClinVar RCV Id:
RCV004195162
dbSNP Id:
rs371502185
ExAC:
6:151936707 G / A
gnomAD v2:
6-151936707-G-A
gnomAD v3:
6-151615572-G-A
gnomAD v4:
6-151615572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615572G>A , CM000668.2:g.151615572G>A | GRCh38 |
| NC_000006.11:g.151936707G>A , CM000668.1:g.151936707G>A | GRCh37 |
| NC_000006.10:g.151978400G>A | NCBI36 |
| NG_021198.1:g.126533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1840G>A MANE Select | ENSP00000239374.6:p.Glu614Lys | |
| ENST00000239374.7:c.1840G>A | ENSP00000239374.6:p.Glu614Lys | |
| NM_025059.3:c.1840G>A | NP_079335.2:p.Glu614Lys | |
| XM_011536147.1:c.1858G>A | XP_011534449.1:p.Glu620Lys | |
| XM_011536148.1:c.1657G>A | XP_011534450.1:p.Glu553Lys | |
| XM_011536147.2:c.1858G>A | XP_011534449.1:p.Glu620Lys | |
| XM_011536148.2:c.1657G>A | XP_011534450.1:p.Glu553Lys | |
| XR_001743865.1:n.129+1149C>T | ||
| NM_025059.4:c.1840G>A MANE Select | NP_079335.2:p.Glu614Lys |