Linked Data
ClinVar Variation Id:
3347
dbSNP Id:
rs9282858
ExAC:
2:31805826 C / T
gnomAD v2:
2-31805826-C-T
gnomAD v3:
2-31580756-C-T
gnomAD v4:
2-31580756-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580756C>T , CM000664.2:g.31580756C>T | GRCh38 |
| NC_000002.11:g.31805826C>T , CM000664.1:g.31805826C>T | GRCh37 |
| NC_000002.10:g.31659330C>T | NCBI36 |
| NG_008365.1:g.5216G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.145G>A MANE Select | ENSP00000477587.1:p.Ala49Thr | |
| ENST00000622030.1:c.145G>A | ENSP00000477587.1:p.Ala49Thr | |
| NM_000348.3:c.145G>A | NP_000339.2:p.Ala49Thr | |
| XM_011533068.1:c.145G>A | XP_011531370.1:p.Ala49Thr | |
| XM_011533070.1:c.27-46990G>A | XP_011531372.1:n.27-46990G>A | |
| XM_011533071.1:c.27-46990G>A | XP_011531373.1:n.27-46990G>A | |
| XM_011533072.1:c.27-46990G>A | XP_011531374.1:n.27-46990G>A | |
| XM_011533072.2:c.27-46990G>A | XP_011531374.1:n.27-46990G>A | |
| NM_000348.4:c.145G>A MANE Select | NP_000339.2:p.Ala49Thr |