Linked Data
dbSNP Id:
rs769766748
ExAC:
3:50382938 G / T
gnomAD v2:
3-50382938-G-T
gnomAD v3:
3-50345507-G-T
gnomAD v4:
3-50345507-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345507G>T , CM000665.2:g.50345507G>T | GRCh38 |
| NC_000003.11:g.50382938G>T , CM000665.1:g.50382938G>T | GRCh37 |
| NC_000003.10:g.50357942G>T | NCBI36 |
| NG_023270.1:g.430C>A | |
| NG_042828.1:g.5240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.73C>A MANE Select | ENSP00000231749.3:p.Arg25Ser | |
| ENST00000231749.7:c.73C>A | ENSP00000231749.3:p.Arg25Ser | |
| ENST00000360165.7:c.73C>A | ENSP00000353289.3:p.Arg25Ser | |
| ENST00000431869.1:c.73C>A | ENSP00000391545.1:p.Arg25Ser | |
| ENST00000442887.1:c.-38+28C>A | ENSP00000393687.1:n.-38+28C>A | |
| ENST00000443080.5:c.73C>A | ENSP00000415661.1:p.Arg25Ser | |
| ENST00000468182.1:n.175C>A | ||
| NM_001308379.1:c.73C>A | NP_001295308.1:p.Arg25Ser | |
| NM_015896.2:c.73C>A | NP_056980.2:p.Arg25Ser | |
| NM_015896.3:c.73C>A | NP_056980.2:p.Arg25Ser | |
| XM_005265216.2:c.-56C>A | XP_005265273.1:n.-56C>A | |
| XM_005265216.3:c.-56C>A | XP_005265273.1:n.-56C>A | |
| NM_015896.4:c.73C>A MANE Select | NP_056980.2:p.Arg25Ser | |
| NM_001308379.2:c.73C>A | NP_001295308.1:p.Arg25Ser |