Linked Data
ClinVar Variation Id:
1079091
ClinVar RCV Id:
RCV001394237
dbSNP Id:
rs769313280
gnomAD v4:
17-42536638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536638C>A , CM000679.2:g.42536638C>A | GRCh38 |
| NC_000017.10:g.40688656C>A , CM000679.1:g.40688656C>A | GRCh37 |
| NC_000017.9:g.37942182C>A | NCBI36 |
| NG_011552.1:g.5706C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.366C>A MANE Select | ENSP00000225927.1:p.Thr122= | |
| ENST00000225927.6:c.366C>A | ENSP00000225927.1:p.Thr122= | |
| ENST00000586516.5:c.116C>A | ||
| ENST00000591587.1:c.109C>A | ENSP00000467836.1:p.Arg37= | |
| NM_000263.3:c.366C>A | NP_000254.2:p.Thr122= | |
| XM_006721920.2:c.-377C>A | XP_006721983.1:n.-377C>A | |
| XM_011524840.1:c.-377C>A | XP_011523142.1:n.-377C>A | |
| XM_024450771.1:c.366C>A | XP_024306539.1:p.Thr122= | |
| NM_000263.4:c.366C>A MANE Select | NP_000254.2:p.Thr122= |