Linked Data
ClinVar Variation Id:
410926
dbSNP Id:
rs1060503078
gnomAD v2:
13-48951156-G-A
gnomAD v3:
13-48377020-G-A
gnomAD v4:
13-48377020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48377020G>A , CM000675.2:g.48377020G>A | GRCh38 |
| NC_000013.10:g.48951156G>A , CM000675.1:g.48951156G>A | GRCh37 |
| NC_000013.9:g.47849157G>A | NCBI36 |
| NG_009009.1:g.78274G>A , LRG_517:g.78274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1318G>A MANE Select | ENSP00000267163.4:p.Glu440Lys | |
| ENST00000650461.1:c.1318G>A | ENSP00000497193.1:p.Glu440Lys | |
| ENST00000267163.4:c.1318G>A | ENSP00000267163.4:p.Glu440Lys | |
| NM_000321.2:c.1318G>A , LRG_517t1:c.1318G>A | NP_000312.2:p.Glu440Lys | |
| XM_011535171.1:c.1057G>A | XP_011533473.1:p.Glu353Lys | |
| XM_011535171.2:c.1057G>A | XP_011533473.1:p.Glu353Lys | |
| XR_002957522.1:n.41-2780C>T | ||
| NM_000321.3:c.1318G>A MANE Select | NP_000312.2:p.Glu440Lys |