Linked Data
ClinVar Variation Id:
858021
dbSNP Id:
rs774193307
gnomAD v2:
12-111351125-G-T
gnomAD v3:
12-110913321-G-T
gnomAD v4:
12-110913321-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913321G>T , CM000674.2:g.110913321G>T | GRCh38 |
| NC_000012.11:g.111351125G>T , CM000674.1:g.111351125G>T | GRCh37 |
| NC_000012.10:g.109835508G>T | NCBI36 |
| NG_007554.1:g.12257C>A , LRG_393:g.12257C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.278C>A MANE Select | ENSP00000228841.8:p.Ala93Glu | |
| ENST00000663220.1:c.221C>A | ENSP00000499568.1:p.Ala74Glu | |
| ENST00000228841.12:c.278C>A | ENSP00000228841.7:p.Ala93Glu | |
| ENST00000548438.1:c.236C>A | ENSP00000447154.1:p.Ala79Glu | |
| ENST00000549029.1:n.109C>A | ||
| NM_000432.3:c.278C>A , LRG_393t1:c.278C>A | NP_000423.2:p.Ala93Glu | |
| NM_000432.4:c.278C>A MANE Select | NP_000423.2:p.Ala93Glu |