Linked Data
dbSNP Id:
rs376987595
ExAC:
3:50382952 C / T
gnomAD v2:
3-50382952-C-T
gnomAD v4:
3-50345521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345521C>T , CM000665.2:g.50345521C>T | GRCh38 |
| NC_000003.11:g.50382952C>T , CM000665.1:g.50382952C>T | GRCh37 |
| NC_000003.10:g.50357956C>T | NCBI36 |
| NG_023270.1:g.416G>A | |
| NG_042828.1:g.5226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.59G>A MANE Select | ENSP00000231749.3:p.Arg20His | |
| ENST00000231749.7:c.59G>A | ENSP00000231749.3:p.Arg20His | |
| ENST00000360165.7:c.59G>A | ENSP00000353289.3:p.Arg20His | |
| ENST00000431869.1:c.59G>A | ENSP00000391545.1:p.Arg20His | |
| ENST00000442887.1:c.-38+14G>A | ENSP00000393687.1:n.-38+14G>A | |
| ENST00000443080.5:c.59G>A | ENSP00000415661.1:p.Arg20His | |
| ENST00000468182.1:n.161G>A | ||
| NM_001308379.1:c.59G>A | NP_001295308.1:p.Arg20His | |
| NM_015896.2:c.59G>A | NP_056980.2:p.Arg20His | |
| NM_015896.3:c.59G>A | NP_056980.2:p.Arg20His | |
| XM_005265216.2:c.-70G>A | XP_005265273.1:n.-70G>A | |
| XM_005265216.3:c.-70G>A | XP_005265273.1:n.-70G>A | |
| NM_015896.4:c.59G>A MANE Select | NP_056980.2:p.Arg20His | |
| NM_001308379.2:c.59G>A | NP_001295308.1:p.Arg20His |