Linked Data
ClinVar Variation Id:
697256
ClinVar RCV Id:
RCV002538933
dbSNP Id:
rs587680539
ExAC:
3:50382932 T / C
gnomAD v2:
3-50382932-T-C
gnomAD v3:
3-50345501-T-C
gnomAD v4:
3-50345501-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345501T>C , CM000665.2:g.50345501T>C | GRCh38 |
| NC_000003.11:g.50382932T>C , CM000665.1:g.50382932T>C | GRCh37 |
| NC_000003.10:g.50357936T>C | NCBI36 |
| NG_023270.1:g.436A>G | |
| NG_042828.1:g.5246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.79A>G MANE Select | ENSP00000231749.3:p.Met27Val | |
| ENST00000231749.7:c.79A>G | ENSP00000231749.3:p.Met27Val | |
| ENST00000360165.7:c.79A>G | ENSP00000353289.3:p.Met27Val | |
| ENST00000431869.1:c.79A>G | ENSP00000391545.1:p.Met27Val | |
| ENST00000442887.1:c.-38+34A>G | ENSP00000393687.1:n.-38+34A>G | |
| ENST00000443080.5:c.79A>G | ENSP00000415661.1:p.Met27Val | |
| ENST00000468182.1:n.181A>G | ||
| NM_001308379.1:c.79A>G | NP_001295308.1:p.Met27Val | |
| NM_015896.2:c.79A>G | NP_056980.2:p.Met27Val | |
| NM_015896.3:c.79A>G | NP_056980.2:p.Met27Val | |
| XM_005265216.2:c.-50A>G | XP_005265273.1:n.-50A>G | |
| XM_005265216.3:c.-50A>G | XP_005265273.1:n.-50A>G | |
| NM_015896.4:c.79A>G MANE Select | NP_056980.2:p.Met27Val | |
| NM_001308379.2:c.79A>G | NP_001295308.1:p.Met27Val |