Linked Data
dbSNP Id:
rs1703443043
gnomAD v4:
3-50343198-C-T
MyVariant Identifiers:
chr3:g.50380629C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343198C>T , CM000665.2:g.50343198C>T | GRCh38 |
| NC_000003.11:g.50380629C>T , CM000665.1:g.50380629C>T | GRCh37 |
| NC_000003.10:g.50355633C>T | NCBI36 |
| NG_023270.1:g.2739G>A | |
| NG_042828.1:g.7549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.519G>A MANE Select | ENSP00000231749.3:p.Gln173= | |
| ENST00000231749.7:c.519G>A | ENSP00000231749.3:p.Gln173= | |
| ENST00000360165.7:c.519G>A | ENSP00000353289.3:p.Gln173= | |
| ENST00000442887.1:c.390G>A | ENSP00000393687.1:p.Gln130= | |
| ENST00000443080.5:c.*271G>A | ENSP00000415661.1:n.*271G>A | |
| ENST00000478269.5:n.604G>A | ||
| NM_001308379.1:c.519G>A | NP_001295308.1:p.Gln173= | |
| NM_015896.2:c.519G>A | NP_056980.2:p.Gln173= | |
| NM_015896.3:c.519G>A | NP_056980.2:p.Gln173= | |
| XM_005265216.2:c.282G>A | XP_005265273.1:p.Gln94= | |
| XM_005265216.3:c.282G>A | XP_005265273.1:p.Gln94= | |
| NM_015896.4:c.519G>A MANE Select | NP_056980.2:p.Gln173= | |
| NM_001308379.2:c.519G>A | NP_001295308.1:p.Gln173= |