Linked Data
ClinVar Variation Id:
703859
ClinVar RCV Id:
RCV000873640
dbSNP Id:
rs201644344
ExAC:
14:73640301 C / T
gnomAD:
14:73640301 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73173593C>T , CM000676.2:g.73173593C>T | GRCh38 |
| NC_000014.8:g.73640301C>T , CM000676.1:g.73640301C>T | GRCh37 |
| NC_000014.7:g.72710054C>T | NCBI36 |
| NG_007386.2:g.42123C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324501.10:c.366C>T MANE Select | ENSP00000326366.5:p.Thr122= | |
| ENST00000324501.9:c.366C>T | ENSP00000326366.5:p.Thr122= | |
| ENST00000357710.8:c.354C>T | ENSP00000350342.4:p.Thr118= | |
| ENST00000394157.7:c.366C>T | ENSP00000377712.3:p.Thr122= | |
| ENST00000394164.5:c.354C>T | ENSP00000377719.1:p.Thr118= | |
| ENST00000406768.1:c.90C>T | ENSP00000385948.1:p.Thr30= | |
| ENST00000553719.5:c.354C>T | ENSP00000451674.1:p.Thr118= | |
| ENST00000553855.5:n.366C>T | ENSP00000452242.1:p.Thr122= | |
| ENST00000555254.5:c.366C>T | ENSP00000450652.1:p.Thr122= | |
| ENST00000555386.5:n.354C>T | ENSP00000450845.1:p.Thr118= | |
| ENST00000557356.5:c.354C>T | ENSP00000451498.1:p.Thr118= | |
| ENST00000557511.5:n.366C>T | ENSP00000451429.1:p.Thr122= | |
| ENST00000559361.5:c.*310C>T | ENSP00000454156.1:n.*310C>T | |
| NM_000021.3:c.366C>T | NP_000012.1:p.Thr122= | |
| NM_007318.2:c.354C>T | NP_015557.2:p.Thr118= | |
| XM_005267864.1:c.366C>T | XP_005267921.1:p.Thr122= | |
| XM_005267866.1:c.354C>T | XP_005267923.1:p.Thr118= | |
| XM_011536971.1:c.366C>T | XP_011535273.1:p.Thr122= | |
| XM_011536972.1:c.366C>T | XP_011535274.1:p.Thr122= | |
| XM_011536973.1:c.354C>T | XP_011535275.1:p.Thr118= | |
| XM_011536974.1:c.354C>T | XP_011535276.1:p.Thr118= | |
| XM_005267864.3:c.366C>T | XP_005267921.1:p.Thr122= | |
| XM_005267866.2:c.354C>T | XP_005267923.1:p.Thr118= | |
| XM_011536972.2:c.366C>T | XP_011535274.1:p.Thr122= | |
| XM_011536973.2:c.354C>T | XP_011535275.1:p.Thr118= | |
| XM_011536974.2:c.354C>T | XP_011535276.1:p.Thr118= | |
| NM_000021.4:c.366C>T MANE Select | NP_000012.1:p.Thr122= | |
| NM_007318.3:c.354C>T | NP_015557.2:p.Thr118= |