Linked Data
ClinVar Variation Id:
225307
dbSNP Id:
rs180858237
ExAC:
1:55474231 G / A
gnomAD v2:
1-55474231-G-A
gnomAD v3:
1-55008558-G-A
gnomAD v4:
1-55008558-G-A
PubMed:
PMID:23967202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55008558G>A , CM000663.2:g.55008558G>A | GRCh38 |
| NC_000001.10:g.55474231G>A , CM000663.1:g.55474231G>A | GRCh37 |
| NC_000001.9:g.55246819G>A | NCBI36 |
| NG_008965.1:g.14615G>A | |
| NG_008965.2:g.14626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.893G>A MANE Select | ENSP00000498282.1:p.Gly298Glu | |
| ENST00000371265.4:c.893G>A | ENSP00000360312.4:p.Gly298Glu | |
| NM_057176.2:c.893G>A | NP_476517.1:p.Gly298Glu | |
| XM_006710883.2:c.662G>A | XP_006710946.1:p.Gly221Glu | |
| NM_057176.3:c.893G>A MANE Select | NP_476517.1:p.Gly298Glu |