Linked Data
ClinVar Variation Id:
214851
dbSNP Id:
rs757486575
ExAC:
11:67376945 G / A
gnomAD v2:
11-67376945-G-A
gnomAD v3:
11-67609474-G-A
gnomAD v4:
11-67609474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67609474G>A , CM000673.2:g.67609474G>A | GRCh38 |
| NC_000011.9:g.67376945G>A , CM000673.1:g.67376945G>A | GRCh37 |
| NC_000011.8:g.67133521G>A | NCBI36 |
| NG_013353.1:g.7623G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322776.11:c.349G>A MANE Select | ENSP00000322450.6:p.Ala117Thr | |
| ENST00000647561.1:c.349G>A | ENSP00000497587.1:p.Ala117Thr | |
| ENST00000322776.10:c.349G>A | ENSP00000322450.6:p.Ala117Thr | |
| ENST00000415352.6:c.328G>A | ENSP00000395368.2:p.Ala110Thr | |
| ENST00000524838.5:n.406G>A | ||
| ENST00000525086.5:n.422G>A | ||
| ENST00000526169.1:n.91G>A | ||
| ENST00000526770.5:n.208G>A | ||
| ENST00000528314.1:c.46G>A | ENSP00000434581.1:p.Ala16Thr | |
| ENST00000528377.1:n.520G>A | ||
| ENST00000529867.5:c.313G>A | ENSP00000434438.1:p.Ala105Thr | |
| ENST00000529927.5:c.322G>A | ENSP00000436766.1:p.Ala108Thr | |
| ENST00000530014.5:n.644G>A | ||
| ENST00000530103.5:c.*243G>A | ENSP00000434575.1:n.*243G>A | |
| ENST00000530638.1:c.232G>A | ENSP00000436936.1:p.Ala78Thr | |
| ENST00000532244.5:c.46G>A | ENSP00000435202.1:p.Ala16Thr | |
| ENST00000532303.5:c.46G>A | ENSP00000432015.1:p.Ala16Thr | |
| ENST00000532343.5:c.46G>A | ENSP00000431751.1:p.Ala16Thr | |
| ENST00000533075.5:c.328G>A | ENSP00000437267.1:p.Ala110Thr | |
| ENST00000534139.5:n.465G>A | ||
| NM_001166102.1:c.322G>A | NP_001159574.1:p.Ala108Thr | |
| NM_007103.3:c.349G>A | NP_009034.2:p.Ala117Thr | |
| NM_001166102.2:c.322G>A | NP_001159574.1:p.Ala108Thr | |
| NM_007103.4:c.349G>A MANE Select | NP_009034.2:p.Ala117Thr |