Linked Data
ClinVar Variation Id:
438132
dbSNP Id:
rs768528387
ExAC:
1:10035689 G / T
gnomAD v2:
1-10035689-G-T
gnomAD v3:
1-9975631-G-T
gnomAD v4:
1-9975631-G-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9975631G>T , CM000663.2:g.9975631G>T | GRCh38 |
| NC_000001.10:g.10035689G>T , CM000663.1:g.10035689G>T | GRCh37 |
| NC_000001.9:g.9958276G>T | NCBI36 |
| NG_032954.1:g.37204G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.155G>T MANE Select | ENSP00000366410.1:p.Gly52Val | |
| ENST00000377205.5:c.155G>T | ENSP00000366410.1:p.Gly52Val | |
| ENST00000403197.5:c.155G>T | ENSP00000385131.1:p.Gly52Val | |
| ENST00000462686.1:c.155G>T | ENSP00000435134.1:p.Gly52Val | |
| NM_001297778.1:c.155G>T | NP_001284707.1:p.Gly52Val | |
| NM_001297779.1:c.155G>T | NP_001284708.1:p.Gly52Val | |
| NM_022787.3:c.155G>T | NP_073624.2:p.Gly52Val | |
| XM_011541971.1:c.155G>T | XP_011540273.1:p.Gly52Val | |
| XM_011541971.2:c.155G>T | XP_011540273.1:p.Gly52Val | |
| XM_017002107.2:c.155G>T | XP_016857596.1:p.Gly52Val | |
| XM_017002108.2:c.155G>T | XP_016857597.1:p.Gly52Val | |
| NM_022787.4:c.155G>T MANE Select | NP_073624.2:p.Gly52Val | |
| NM_001297779.2:c.155G>T | NP_001284708.1:p.Gly52Val |