Linked Data
ClinVar Variation Id:
166665
dbSNP Id:
rs143092701
ExAC:
17:6328929 C / T
gnomAD v2:
17-6328929-C-T
gnomAD v3:
17-6425609-C-T
gnomAD v4:
17-6425609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425609C>T , CM000679.2:g.6425609C>T | GRCh38 |
| NC_000017.10:g.6328929C>T , CM000679.1:g.6328929C>T | GRCh37 |
| NC_000017.9:g.6269653C>T | NCBI36 |
| NG_008474.1:g.14591G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.1006G>A MANE Select | ENSP00000370521.3:p.Ala336Thr | |
| ENST00000250087.9:c.817G>A | ENSP00000250087.5:p.Ala273Thr | |
| ENST00000381128.2:c.*878G>A | ENSP00000370520.2:n.*878G>A | |
| ENST00000381129.7:c.1006G>A | ENSP00000370521.3:p.Ala336Thr | |
| ENST00000570466.5:c.940G>A | ENSP00000461287.1:p.Ala314Thr | |
| ENST00000570584.5:c.251+8310G>A | ||
| ENST00000574506.5:c.970G>A | ENSP00000458456.1:p.Ala324Thr | |
| ENST00000575265.5:c.*977G>A | ENSP00000459673.1:n.*977G>A | |
| ENST00000576307.5:c.826G>A | ENSP00000459522.1:p.Ala276Thr | |
| ENST00000576776.5:c.934G>A | ENSP00000460827.1:p.Ala312Thr | |
| ENST00000621374.4:c.*24G>A | ENSP00000481337.1:n.*24G>A | |
| NM_001033054.2:c.817G>A | NP_001028226.1:p.Ala273Thr | |
| NM_001033055.2:c.826G>A | NP_001028227.1:p.Ala276Thr | |
| NM_001285399.2:c.970G>A | NP_001272328.1:p.Ala324Thr | |
| NM_001285400.2:c.940G>A | NP_001272329.1:p.Ala314Thr | |
| NM_001285401.2:c.934G>A | NP_001272330.1:p.Ala312Thr | |
| NM_001285402.1:c.889G>A | NP_001272331.1:p.Ala297Thr | |
| NM_014336.4:c.1006G>A | NP_055151.3:p.Ala336Thr | |
| NM_001033054.3:c.817G>A | NP_001028226.1:p.Ala273Thr | |
| NM_001033055.3:c.826G>A | NP_001028227.1:p.Ala276Thr | |
| NM_001285399.3:c.970G>A | NP_001272328.1:p.Ala324Thr | |
| NM_001285400.3:c.940G>A | NP_001272329.1:p.Ala314Thr | |
| NM_001285401.3:c.934G>A | NP_001272330.1:p.Ala312Thr | |
| NM_001285402.2:c.889G>A | NP_001272331.1:p.Ala297Thr | |
| NM_001285403.3:c.*977G>A | NP_001272332.1:n.*977G>A | |
| NM_014336.5:c.1006G>A MANE Select | NP_055151.3:p.Ala336Thr | |
| NM_001285403.4:c.*977G>A | NP_001272332.1:n.*977G>A |