Linked Data
ClinVar Variation Id:
372519
dbSNP Id:
rs368386747
ExAC:
2:31758741 T / C
gnomAD v2:
2-31758741-T-C
gnomAD v3:
2-31533671-T-C
gnomAD v4:
2-31533671-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533671T>C , CM000664.2:g.31533671T>C | GRCh38 |
| NC_000002.11:g.31758741T>C , CM000664.1:g.31758741T>C | GRCh37 |
| NC_000002.10:g.31612245T>C | NCBI36 |
| NG_008365.1:g.52301A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.377A>G MANE Select | ENSP00000477587.1:p.Gln126Arg | |
| ENST00000622030.1:c.377A>G | ENSP00000477587.1:p.Gln126Arg | |
| NM_000348.3:c.377A>G | NP_000339.2:p.Gln126Arg | |
| XM_011533068.1:c.377A>G | XP_011531370.1:p.Gln126Arg | |
| XM_011533069.1:c.155A>G | XP_011531371.1:p.Gln52Arg | |
| XM_011533070.1:c.122A>G | XP_011531372.1:p.Gln41Arg | |
| XM_011533071.1:c.122A>G | XP_011531373.1:p.Gln41Arg | |
| XM_011533072.1:c.122A>G | XP_011531374.1:p.Gln41Arg | |
| XM_011533069.2:c.155A>G | XP_011531371.1:p.Gln52Arg | |
| XM_011533072.2:c.122A>G | XP_011531374.1:p.Gln41Arg | |
| NM_000348.4:c.377A>G MANE Select | NP_000339.2:p.Gln126Arg |