Linked Data
ClinVar Variation Id:
325546
dbSNP Id:
rs199861986
ExAC:
17:75398602 G / A
gnomAD v2:
17-75398602-G-A
gnomAD v3:
17-77402520-G-A
gnomAD v4:
17-77402520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402520G>A , CM000679.2:g.77402520G>A | GRCh38 |
| NC_000017.10:g.75398602G>A , CM000679.1:g.75398602G>A | GRCh37 |
| NC_000017.9:g.72910197G>A | NCBI36 |
| NG_011683.1:g.126111G>A | |
| NG_011683.2:g.126111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.484G>A MANE Plus Clinical | ENSP00000329161.8:p.Ala162Thr | |
| ENST00000427177.6:c.538G>A MANE Select | ENSP00000391249.1:p.Ala180Thr | |
| ENST00000588690.6:c.46G>A | ENSP00000468668.1:p.Ala16Thr | |
| ENST00000590294.6:n.587G>A | ||
| ENST00000329047.12:c.484G>A | ENSP00000329161.8:p.Ala162Thr | |
| ENST00000423034.6:c.517G>A | ENSP00000405877.1:p.Ala173Thr | |
| ENST00000427177.5:c.538G>A | ENSP00000391249.1:p.Ala180Thr | |
| ENST00000427674.6:c.46G>A | ENSP00000403194.1:p.Ala16Thr | |
| ENST00000431235.6:c.46G>A | ENSP00000406987.2:p.Ala16Thr | |
| ENST00000449803.6:c.46G>A | ENSP00000400181.2:p.Ala16Thr | |
| ENST00000588575.1:c.195+25G>A | ENSP00000468090.1:n.195+25G>A | |
| ENST00000588690.5:c.46G>A | ENSP00000468668.1:p.Ala16Thr | |
| ENST00000590059.5:c.25-36G>A | ENSP00000466164.1:n.25-36G>A | |
| ENST00000590294.5:c.484G>A | ENSP00000465464.1:p.Ala162Thr | |
| ENST00000590595.1:c.220G>A | ENSP00000465026.1:p.Ala74Thr | |
| ENST00000590825.1:c.46G>A | ENSP00000468244.1:p.Ala16Thr | |
| ENST00000591198.5:c.481G>A | ENSP00000468406.1:p.Ala161Thr | |
| ENST00000592420.1:c.-36G>A | ENSP00000467051.1:n.-36G>A | |
| NM_001113491.1:c.538G>A | NP_001106963.1:p.Ala180Thr | |
| NM_001113492.1:c.46G>A | NP_001106964.1:p.Ala16Thr | |
| NM_001113493.1:c.517G>A | NP_001106965.1:p.Ala173Thr | |
| NM_001113494.1:c.46G>A | NP_001106966.1:p.Ala16Thr | |
| NM_001293695.1:c.481G>A | NP_001280624.1:p.Ala161Thr | |
| NM_006640.4:c.484G>A | NP_006631.2:p.Ala162Thr | |
| XM_006721643.2:c.46G>A | XP_006721706.1:p.Ala16Thr | |
| XM_011524204.1:c.631G>A | XP_011522506.1:p.Ala211Thr | |
| XM_011524205.1:c.628G>A | XP_011522507.1:p.Ala210Thr | |
| XM_011524206.1:c.493G>A | XP_011522508.1:p.Ala165Thr | |
| XM_011524207.1:c.46G>A | XP_011522509.1:p.Ala16Thr | |
| NM_001113491.2:c.538G>A MANE Select | NP_001106963.1:p.Ala180Thr | |
| NM_001113493.2:c.517G>A | NP_001106965.1:p.Ala173Thr | |
| NM_001293695.2:c.481G>A | NP_001280624.1:p.Ala161Thr | |
| NM_001113492.2:c.46G>A | NP_001106964.1:p.Ala16Thr | |
| NM_006640.5:c.484G>A MANE Plus Clinical | NP_006631.2:p.Ala162Thr |