Linked Data
ClinVar Variation Id:
324612
dbSNP Id:
rs199772097
ExAC:
17:6329161 C / T
gnomAD v2:
17-6329161-C-T
gnomAD v4:
17-6425841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425841C>T , CM000679.2:g.6425841C>T | GRCh38 |
| NC_000017.10:g.6329161C>T , CM000679.1:g.6329161C>T | GRCh37 |
| NC_000017.9:g.6269885C>T | NCBI36 |
| NG_008474.1:g.14359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.785-11G>A MANE Select | ENSP00000370521.3:n.785-11G>A | |
| ENST00000250087.9:c.596-11G>A | ENSP00000250087.5:n.596-11G>A | |
| ENST00000381128.2:c.*657-11G>A | ENSP00000370520.2:n.*657-11G>A | |
| ENST00000381129.7:c.785-11G>A | ENSP00000370521.3:n.785-11G>A | |
| ENST00000570466.5:c.719-11G>A | ENSP00000461287.1:n.719-11G>A | |
| ENST00000570584.5:c.251+8078G>A | ||
| ENST00000574506.5:c.749-11G>A | ENSP00000458456.1:n.749-11G>A | |
| ENST00000575265.5:c.*745G>A | ENSP00000459673.1:n.*745G>A | |
| ENST00000576307.5:c.605-11G>A | ENSP00000459522.1:n.605-11G>A | |
| ENST00000576776.5:c.713-11G>A | ENSP00000460827.1:n.713-11G>A | |
| ENST00000621374.4:c.785-11G>A | ENSP00000481337.1:n.785-11G>A | |
| NM_001033054.2:c.596-11G>A | NP_001028226.1:n.596-11G>A | |
| NM_001033055.2:c.605-11G>A | NP_001028227.1:n.605-11G>A | |
| NM_001285399.2:c.749-11G>A | NP_001272328.1:n.749-11G>A | |
| NM_001285400.2:c.719-11G>A | NP_001272329.1:n.719-11G>A | |
| NM_001285401.2:c.713-11G>A | NP_001272330.1:n.713-11G>A | |
| NM_001285402.1:c.668-11G>A | NP_001272331.1:n.668-11G>A | |
| NM_014336.4:c.785-11G>A | NP_055151.3:n.785-11G>A | |
| NM_001033054.3:c.596-11G>A | NP_001028226.1:n.596-11G>A | |
| NM_001033055.3:c.605-11G>A | NP_001028227.1:n.605-11G>A | |
| NM_001285399.3:c.749-11G>A | NP_001272328.1:n.749-11G>A | |
| NM_001285400.3:c.719-11G>A | NP_001272329.1:n.719-11G>A | |
| NM_001285401.3:c.713-11G>A | NP_001272330.1:n.713-11G>A | |
| NM_001285402.2:c.668-11G>A | NP_001272331.1:n.668-11G>A | |
| NM_001285403.3:c.*745G>A | NP_001272332.1:n.*745G>A | |
| NM_014336.5:c.785-11G>A MANE Select | NP_055151.3:n.785-11G>A | |
| NM_001285403.4:c.*745G>A | NP_001272332.1:n.*745G>A |