Linked Data
ClinVar Variation Id:
2370065
ClinVar RCV Id:
RCV004209785
dbSNP Id:
rs866281765
gnomAD v2:
14-23517274-C-T
gnomAD v3:
14-23048065-C-T
gnomAD v4:
14-23048065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23048065C>T , CM000676.2:g.23048065C>T | GRCh38 |
| NC_000014.8:g.23517274C>T , CM000676.1:g.23517274C>T | GRCh37 |
| NC_000014.7:g.22587114C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487137.7:c.2261G>A MANE Select | ENSP00000434821.2:p.Gly754Asp | |
| ENST00000267383.5:c.2375G>A | ENSP00000267383.5:p.Gly792Asp | |
| ENST00000397359.7:c.2375G>A | ENSP00000380517.3:p.Gly792Asp | |
| ENST00000485922.2:n.1094G>A | ||
| ENST00000487137.6:c.2261G>A | ENSP00000434821.2:p.Gly754Asp | |
| ENST00000554034.5:c.2261G>A | ENSP00000452493.1:p.Gly754Asp | |
| ENST00000610348.1:c.860G>A | ENSP00000478078.1:p.Gly287Asp | |
| NM_022478.3:c.2375G>A | NP_071923.2:p.Gly792Asp | |
| NM_144985.3:c.2261G>A | NP_659422.2:p.Gly754Asp | |
| XM_011537088.1:c.2276+99G>A | XP_011535390.1:n.2276+99G>A | |
| NM_022478.4:c.2375G>A | NP_071923.2:p.Gly792Asp | |
| NM_144985.4:c.2261G>A MANE Select | NP_659422.2:p.Gly754Asp |