Linked Data
ClinVar Variation Id:
13569
dbSNP Id:
rs79560904
PubMed:
PMID:20020534
ERepo:
CA123256/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286385G>A , CM000679.2:g.47286385G>A | GRCh38 |
| NC_000017.10:g.45363751G>A , CM000679.1:g.45363751G>A | GRCh37 |
| NC_000017.9:g.42718750G>A | NCBI36 |
| NG_008332.2:g.37544G>A , LRG_481:g.37544G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696963.1:c.740G>A | ENSP00000513002.1:p.Gly247Asp | |
| ENST00000559488.7:c.740G>A MANE Select | ENSP00000452786.2:p.Gly247Asp | |
| ENST00000559488.5:c.740G>A | ENSP00000452786.1:p.Gly247Asp | |
| ENST00000560629.1:c.705G>A | ||
| ENST00000571680.1:c.740G>A | ENSP00000461626.1:p.Gly247Asp | |
| NM_000212.2:c.740G>A , LRG_481t1:c.740G>A | NP_000203.2:p.Gly247Asp | |
| NM_000212.3:c.740G>A MANE Select | NP_000203.2:p.Gly247Asp |