Linked Data
ClinVar Variation Id:
410633
dbSNP Id:
rs146847253
ExAC:
3:50381254 C / T
gnomAD v2:
3-50381254-C-T
gnomAD v3:
3-50343823-C-T
gnomAD v4:
3-50343823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343823C>T , CM000665.2:g.50343823C>T | GRCh38 |
| NC_000003.11:g.50381254C>T , CM000665.1:g.50381254C>T | GRCh37 |
| NC_000003.10:g.50356258C>T | NCBI36 |
| NG_023270.1:g.2114G>A | |
| NG_042828.1:g.6924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.229G>A MANE Select | ENSP00000231749.3:p.Ala77Thr | |
| ENST00000231749.7:c.229G>A | ENSP00000231749.3:p.Ala77Thr | |
| ENST00000360165.7:c.229G>A | ENSP00000353289.3:p.Ala77Thr | |
| ENST00000431869.1:c.*119G>A | ENSP00000391545.1:n.*119G>A | |
| ENST00000442887.1:c.100G>A | ENSP00000393687.1:p.Ala34Thr | |
| ENST00000443080.5:c.*119G>A | ENSP00000415661.1:n.*119G>A | |
| ENST00000478269.5:n.214G>A | ||
| NM_001308379.1:c.229G>A | NP_001295308.1:p.Ala77Thr | |
| NM_015896.2:c.229G>A | NP_056980.2:p.Ala77Thr | |
| NM_015896.3:c.229G>A | NP_056980.2:p.Ala77Thr | |
| XM_005265216.2:c.-9G>A | XP_005265273.1:n.-9G>A | |
| XM_005265216.3:c.-9G>A | XP_005265273.1:n.-9G>A | |
| NM_015896.4:c.229G>A MANE Select | NP_056980.2:p.Ala77Thr | |
| NM_001308379.2:c.229G>A | NP_001295308.1:p.Ala77Thr |