Linked Data
ClinVar Variation Id:
492896
ClinVar RCV Id:
RCV000582093
dbSNP Id:
rs750444774
ExAC:
2:31805802 C / G
gnomAD v2:
2-31805802-C-G
gnomAD v3:
2-31580732-C-G
gnomAD v4:
2-31580732-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580732C>G , CM000664.2:g.31580732C>G | GRCh38 |
| NC_000002.11:g.31805802C>G , CM000664.1:g.31805802C>G | GRCh37 |
| NC_000002.10:g.31659306C>G | NCBI36 |
| NG_008365.1:g.5240G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.169G>C MANE Select | ENSP00000477587.1:p.Glu57Gln | |
| ENST00000622030.1:c.169G>C | ENSP00000477587.1:p.Glu57Gln | |
| NM_000348.3:c.169G>C | NP_000339.2:p.Glu57Gln | |
| XM_011533068.1:c.169G>C | XP_011531370.1:p.Glu57Gln | |
| XM_011533070.1:c.27-46966G>C | XP_011531372.1:n.27-46966G>C | |
| XM_011533071.1:c.27-46966G>C | XP_011531373.1:n.27-46966G>C | |
| XM_011533072.1:c.27-46966G>C | XP_011531374.1:n.27-46966G>C | |
| XM_011533072.2:c.27-46966G>C | XP_011531374.1:n.27-46966G>C | |
| NM_000348.4:c.169G>C MANE Select | NP_000339.2:p.Glu57Gln |