Linked Data
ClinVar Variation Id:
136261
dbSNP Id:
rs77763289
ExAC:
17:7125341 T / A
gnomAD v2:
17-7125341-T-A
gnomAD v3:
17-7222022-T-A
gnomAD v4:
17-7222022-T-A
ERepo:
CA289257/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222022T>A , CM000679.2:g.7222022T>A | GRCh38 |
| NC_000017.10:g.7125341T>A , CM000679.1:g.7125341T>A | GRCh37 |
| NC_000017.9:g.7066065T>A | NCBI36 |
| NG_007975.1:g.7189T>A | |
| NG_008391.2:g.3029A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.693T>A MANE Select | ENSP00000349297.5:p.Ser231= | |
| ENST00000322910.9:c.*648T>A | ENSP00000325395.5:n.*648T>A | |
| ENST00000350303.9:c.627T>A | ENSP00000344152.5:p.Ser209= | |
| ENST00000356839.9:c.693T>A | ENSP00000349297.5:p.Ser231= | |
| ENST00000543245.6:c.762T>A | ENSP00000438689.2:p.Ser254= | |
| ENST00000577191.5:n.770T>A | ||
| ENST00000577857.5:n.509T>A | ||
| ENST00000579286.5:n.874T>A | ||
| ENST00000580365.1:n.424T>A | ||
| ENST00000581378.5:c.411T>A | ||
| ENST00000582379.1:n.77T>A | ||
| ENST00000583760.1:n.475T>A | ||
| NM_000018.3:c.693T>A | NP_000009.1:p.Ser231= | |
| NM_001033859.2:c.627T>A | NP_001029031.1:p.Ser209= | |
| NM_001270447.1:c.762T>A | NP_001257376.1:p.Ser254= | |
| NM_001270448.1:c.465T>A | NP_001257377.1:p.Ser155= | |
| XM_006721516.2:c.693T>A | XP_006721579.2:p.Ser231= | |
| XM_011523829.1:c.693T>A | XP_011522131.1:p.Ser231= | |
| XM_011523830.1:c.693T>A | XP_011522132.1:p.Ser231= | |
| XR_934021.1:n.800T>A | ||
| XR_934022.1:n.800T>A | ||
| XR_934023.1:n.800T>A | ||
| XM_006721516.3:c.693T>A | XP_006721579.2:p.Ser231= | |
| XM_011523829.2:c.693T>A | XP_011522131.1:p.Ser231= | |
| XM_011523830.2:c.693T>A | XP_011522132.1:p.Ser231= | |
| XM_024450741.1:c.693T>A | XP_024306509.1:p.Ser231= | |
| XR_934021.2:n.752T>A | ||
| XR_934022.2:n.752T>A | ||
| XR_934023.2:n.752T>A | ||
| NM_000018.4:c.693T>A MANE Select | NP_000009.1:p.Ser231= | |
| NM_001033859.3:c.627T>A | NP_001029031.1:p.Ser209= | |
| NM_001270447.2:c.762T>A | NP_001257376.1:p.Ser254= | |
| NM_001270448.2:c.465T>A | NP_001257377.1:p.Ser155= |