Linked Data
ClinVar Variation Id:
2773399
ClinVar RCV Id:
RCV003528081
dbSNP Id:
rs775219277
ExAC:
15:48829891 C / T
gnomAD v2:
15-48829891-C-T
gnomAD v3:
15-48537694-C-T
gnomAD v4:
15-48537694-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537694C>T , CM000677.2:g.48537694C>T | GRCh38 |
| NC_000015.9:g.48829891C>T , CM000677.1:g.48829891C>T | GRCh37 |
| NC_000015.8:g.46617183C>T | NCBI36 |
| NG_008805.2:g.113095G>A , LRG_778:g.113095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.653G>A | ENSP00000453958.2:p.Gly218Asp | |
| ENST00000674301.2:c.653G>A | ENSP00000501333.2:p.Gly218Asp | |
| ENST00000316623.10:c.653G>A MANE Select | ENSP00000325527.5:p.Gly218Asp | |
| ENST00000316623.9:c.653G>A | ENSP00000325527.5:p.Gly218Asp | |
| ENST00000537463.6:c.636+17G>A | ENSP00000440294.2:n.636+17G>A | |
| NM_000138.4:c.653G>A , LRG_778t1:c.653G>A | NP_000129.3:p.Gly218Asp | |
| NM_000138.5:c.653G>A MANE Select | NP_000129.3:p.Gly218Asp |