Linked Data
ClinVar Variation Id:
525436
ClinVar RCV Id:
RCV000629493
dbSNP Id:
rs529566924
ExAC:
7:21630968 G / A
gnomAD v2:
7-21630968-G-A
gnomAD v3:
7-21591350-G-A
gnomAD v4:
7-21591350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21591350G>A , CM000669.2:g.21591350G>A | GRCh38 |
| NC_000007.13:g.21630968G>A , CM000669.1:g.21630968G>A | GRCh37 |
| NC_000007.12:g.21597493G>A | NCBI36 |
| NG_012886.2:g.53136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2440G>A MANE Select | ENSP00000475939.1:p.Glu814Lys | |
| ENST00000328843.10:c.2440G>A | ENSP00000330671.7:p.Glu814Lys | |
| ENST00000409508.7:c.2440G>A | ENSP00000475939.1:p.Glu814Lys | |
| ENST00000620169.4:c.2440G>A | ENSP00000481693.1:p.Glu814Lys | |
| NM_001277115.1:c.2440G>A | NP_001264044.1:p.Glu814Lys | |
| NM_001277115.2:c.2440G>A MANE Select | NP_001264044.1:p.Glu814Lys |