Linked Data
ClinVar Variation Id:
472014
dbSNP Id:
rs771092335
gnomAD v2:
7-128483349-G-A
gnomAD v3:
7-128843295-G-A
gnomAD v4:
7-128843295-G-A
COSMIC:
COSM4822114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843295G>A , CM000669.2:g.128843295G>A | GRCh38 |
| NC_000007.13:g.128483349G>A , CM000669.1:g.128483349G>A | GRCh37 |
| NC_000007.12:g.128270585G>A | NCBI36 |
| NG_011807.1:g.17867G>A , LRG_870:g.17867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2617G>A MANE Select | ENSP00000327145.8:p.Glu873Lys | |
| ENST00000325888.12:c.2617G>A | ENSP00000327145.8:p.Glu873Lys | |
| ENST00000346177.6:c.2617G>A | ENSP00000344002.6:p.Glu873Lys | |
| NM_001127487.1:c.2617G>A | NP_001120959.1:p.Glu873Lys | |
| NM_001458.4:c.2617G>A , LRG_870t1:c.2617G>A | NP_001449.3:p.Glu873Lys | |
| NM_001127487.2:c.2617G>A | NP_001120959.1:p.Glu873Lys | |
| NM_001458.5:c.2617G>A MANE Select | NP_001449.3:p.Glu873Lys |