Linked Data
ClinVar Variation Id:
241066
dbSNP Id:
rs114329675
ExAC:
3:50379289 T / C
gnomAD v2:
3-50379289-T-C
gnomAD v3:
3-50341858-T-C
gnomAD v4:
3-50341858-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50341858T>C , CM000665.2:g.50341858T>C | GRCh38 |
| NC_000003.11:g.50379289T>C , CM000665.1:g.50379289T>C | GRCh37 |
| NC_000003.10:g.50354293T>C | NCBI36 |
| NG_023270.1:g.4079A>G | |
| NG_042828.1:g.8889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.1073A>G MANE Select | ENSP00000231749.3:p.Gln358Arg | |
| ENST00000231749.7:c.1073A>G | ENSP00000231749.3:p.Gln358Arg | |
| ENST00000360165.7:c.1058A>G | ENSP00000353289.3:p.Gln353Arg | |
| ENST00000475688.1:n.1228A>G | ||
| ENST00000490675.5:n.126A>G | ||
| NM_001308379.1:c.1058A>G | NP_001295308.1:p.Gln353Arg | |
| NM_015896.2:c.1073A>G | NP_056980.2:p.Gln358Arg | |
| NM_015896.3:c.1073A>G | NP_056980.2:p.Gln358Arg | |
| XM_005265216.2:c.836A>G | XP_005265273.1:p.Gln279Arg | |
| XM_005265216.3:c.836A>G | XP_005265273.1:p.Gln279Arg | |
| NM_015896.4:c.1073A>G MANE Select | NP_056980.2:p.Gln358Arg | |
| NM_001308379.2:c.1058A>G | NP_001295308.1:p.Gln353Arg |