Linked Data
ClinVar Variation Id:
8450
dbSNP Id:
rs121909341
ExAC:
5:169535278 G / A
gnomAD v2:
5-169535278-G-A
gnomAD v3:
5-170108274-G-A
gnomAD v4:
5-170108274-G-A
PubMed:
PMID:17503324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170108274G>A , CM000667.2:g.170108274G>A | GRCh38 |
| NC_000005.9:g.169535278G>A , CM000667.1:g.169535278G>A | GRCh37 |
| NC_000005.8:g.169467856G>A | NCBI36 |
| NG_012068.1:g.7362G>A | |
| NG_012068.2:g.7362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306268.8:c.800G>A MANE Select | ENSP00000304286.5:p.Arg267Gln | |
| ENST00000449804.4:c.575-60G>A | ENSP00000415483.2:n.575-60G>A | |
| ENST00000306268.6:c.800G>A | ENSP00000304286.5:p.Arg267Gln | |
| ENST00000449804.3:c.575-60G>A | ENSP00000415483.2:n.575-60G>A | |
| NM_012188.4:c.800G>A | NP_036320.2:p.Arg267Gln | |
| NM_144769.2:c.575-60G>A | NP_658982.1:n.575-60G>A | |
| NM_012188.5:c.800G>A MANE Select | NP_036320.2:p.Arg267Gln | |
| NM_144769.3:c.575-60G>A | NP_658982.1:n.575-60G>A | |
| NM_144769.4:c.575-60G>A | NP_658982.1:n.575-60G>A |