Linked Data
ClinVar Variation Id:
889339
dbSNP Id:
rs751700711
ExAC:
17:6328881 C / T
gnomAD v2:
17-6328881-C-T
gnomAD v3:
17-6425561-C-T
gnomAD v4:
17-6425561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425561C>T , CM000679.2:g.6425561C>T | GRCh38 |
| NC_000017.10:g.6328881C>T , CM000679.1:g.6328881C>T | GRCh37 |
| NC_000017.9:g.6269605C>T | NCBI36 |
| NG_008474.1:g.14639G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1054G>A MANE Select | ENSP00000370521.3:p.Ala352Thr | |
| ENST00000250087.9:c.865G>A | ENSP00000250087.5:p.Ala289Thr | |
| ENST00000381128.2:c.*926G>A | ENSP00000370520.2:n.*926G>A | |
| ENST00000381129.7:c.1054G>A | ENSP00000370521.3:p.Ala352Thr | |
| ENST00000570466.5:c.988G>A | ENSP00000461287.1:p.Ala330Thr | |
| ENST00000570584.5:c.251+8358G>A | ||
| ENST00000574506.5:c.1018G>A | ENSP00000458456.1:p.Ala340Thr | |
| ENST00000575265.5:c.*1025G>A | ENSP00000459673.1:n.*1025G>A | |
| ENST00000576307.5:c.874G>A | ENSP00000459522.1:p.Ala292Thr | |
| ENST00000576776.5:c.982G>A | ENSP00000460827.1:p.Ala328Thr | |
| ENST00000621374.4:c.*72G>A | ENSP00000481337.1:n.*72G>A | |
| NM_001033054.2:c.865G>A | NP_001028226.1:p.Ala289Thr | |
| NM_001033055.2:c.874G>A | NP_001028227.1:p.Ala292Thr | |
| NM_001285399.2:c.1018G>A | NP_001272328.1:p.Ala340Thr | |
| NM_001285400.2:c.988G>A | NP_001272329.1:p.Ala330Thr | |
| NM_001285401.2:c.982G>A | NP_001272330.1:p.Ala328Thr | |
| NM_001285402.1:c.937G>A | NP_001272331.1:p.Ala313Thr | |
| NM_014336.4:c.1054G>A | NP_055151.3:p.Ala352Thr | |
| NM_001033054.3:c.865G>A | NP_001028226.1:p.Ala289Thr | |
| NM_001033055.3:c.874G>A | NP_001028227.1:p.Ala292Thr | |
| NM_001285399.3:c.1018G>A | NP_001272328.1:p.Ala340Thr | |
| NM_001285400.3:c.988G>A | NP_001272329.1:p.Ala330Thr | |
| NM_001285401.3:c.982G>A | NP_001272330.1:p.Ala328Thr | |
| NM_001285402.2:c.937G>A | NP_001272331.1:p.Ala313Thr | |
| NM_001285403.3:c.*1025G>A | NP_001272332.1:n.*1025G>A | |
| NM_014336.5:c.1054G>A MANE Select | NP_055151.3:p.Ala352Thr | |
| NM_001285403.4:c.*1025G>A | NP_001272332.1:n.*1025G>A |