Linked Data
dbSNP Id:
rs1703506823
gnomAD v3:
3-50345217-A-G
gnomAD v4:
3-50345217-A-G
MyVariant Identifiers:
chr3:g.50382648A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345217A>G , CM000665.2:g.50345217A>G | GRCh38 |
| NC_000003.11:g.50382648A>G , CM000665.1:g.50382648A>G | GRCh37 |
| NC_000003.10:g.50357652A>G | NCBI36 |
| NG_023270.1:g.720T>C | |
| NG_042828.1:g.5530T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.108T>C MANE Select | ENSP00000231749.3:p.His36= | |
| ENST00000231749.7:c.108T>C | ENSP00000231749.3:p.His36= | |
| ENST00000360165.7:c.108T>C | ENSP00000353289.3:p.His36= | |
| ENST00000431869.1:c.112T>C | ENSP00000391545.1:p.Ter38Arg | |
| ENST00000442887.1:c.-22T>C | ENSP00000393687.1:n.-22T>C | |
| ENST00000443080.5:c.112T>C | ENSP00000415661.1:p.Ter38Arg | |
| ENST00000468182.1:n.210T>C | ||
| NM_001308379.1:c.108T>C | NP_001295308.1:p.His36= | |
| NM_015896.2:c.108T>C | NP_056980.2:p.His36= | |
| NM_015896.3:c.108T>C | NP_056980.2:p.His36= | |
| XM_005265216.2:c.-37+271T>C | XP_005265273.1:n.-37+271T>C | |
| XM_005265216.3:c.-37+271T>C | XP_005265273.1:n.-37+271T>C | |
| NM_015896.4:c.108T>C MANE Select | NP_056980.2:p.His36= | |
| NM_001308379.2:c.108T>C | NP_001295308.1:p.His36= |