Linked Data
ClinVar Variation Id:
3340
ClinVar RCV Id:
RCV000003504
dbSNP Id:
rs121434246
ExAC:
2:31758774 C / T
gnomAD v2:
2-31758774-C-T
gnomAD v3:
2-31533704-C-T
gnomAD v4:
2-31533704-C-T
PubMed:
PMID:8626825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533704C>T , CM000664.2:g.31533704C>T | GRCh38 |
| NC_000002.11:g.31758774C>T , CM000664.1:g.31758774C>T | GRCh37 |
| NC_000002.10:g.31612278C>T | NCBI36 |
| NG_008365.1:g.52268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.344G>A MANE Select | ENSP00000477587.1:p.Gly115Asp | |
| ENST00000622030.1:c.344G>A | ENSP00000477587.1:p.Gly115Asp | |
| NM_000348.3:c.344G>A | NP_000339.2:p.Gly115Asp | |
| XM_011533068.1:c.344G>A | XP_011531370.1:p.Gly115Asp | |
| XM_011533069.1:c.122G>A | XP_011531371.1:p.Gly41Asp | |
| XM_011533070.1:c.89G>A | XP_011531372.1:p.Gly30Asp | |
| XM_011533071.1:c.89G>A | XP_011531373.1:p.Gly30Asp | |
| XM_011533072.1:c.89G>A | XP_011531374.1:p.Gly30Asp | |
| XM_011533069.2:c.122G>A | XP_011531371.1:p.Gly41Asp | |
| XM_011533072.2:c.89G>A | XP_011531374.1:p.Gly30Asp | |
| NM_000348.4:c.344G>A MANE Select | NP_000339.2:p.Gly115Asp |