Linked Data
ClinVar Variation Id:
198208
dbSNP Id:
rs150427474
ExAC:
17:6328964 C / A
gnomAD v2:
17-6328964-C-A
gnomAD v3:
17-6425644-C-A
gnomAD v4:
17-6425644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425644C>A , CM000679.2:g.6425644C>A | GRCh38 |
| NC_000017.10:g.6328964C>A , CM000679.1:g.6328964C>A | GRCh37 |
| NC_000017.9:g.6269688C>A | NCBI36 |
| NG_008474.1:g.14556G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.971G>T MANE Select | ENSP00000370521.3:p.Arg324Leu | |
| ENST00000250087.9:c.782G>T | ENSP00000250087.5:p.Arg261Leu | |
| ENST00000381128.2:c.*843G>T | ENSP00000370520.2:n.*843G>T | |
| ENST00000381129.7:c.971G>T | ENSP00000370521.3:p.Arg324Leu | |
| ENST00000570466.5:c.905G>T | ENSP00000461287.1:p.Arg302Leu | |
| ENST00000570584.5:c.251+8275G>T | ||
| ENST00000574506.5:c.935G>T | ENSP00000458456.1:p.Arg312Leu | |
| ENST00000575265.5:c.*942G>T | ENSP00000459673.1:n.*942G>T | |
| ENST00000576307.5:c.791G>T | ENSP00000459522.1:p.Arg264Leu | |
| ENST00000576776.5:c.899G>T | ENSP00000460827.1:p.Arg300Leu | |
| ENST00000621374.4:c.970G>T | ENSP00000481337.1:p.Gly324Ter | |
| NM_001033054.2:c.782G>T | NP_001028226.1:p.Arg261Leu | |
| NM_001033055.2:c.791G>T | NP_001028227.1:p.Arg264Leu | |
| NM_001285399.2:c.935G>T | NP_001272328.1:p.Arg312Leu | |
| NM_001285400.2:c.905G>T | NP_001272329.1:p.Arg302Leu | |
| NM_001285401.2:c.899G>T | NP_001272330.1:p.Arg300Leu | |
| NM_001285402.1:c.854G>T | NP_001272331.1:p.Arg285Leu | |
| NM_014336.4:c.971G>T | NP_055151.3:p.Arg324Leu | |
| NM_001033054.3:c.782G>T | NP_001028226.1:p.Arg261Leu | |
| NM_001033055.3:c.791G>T | NP_001028227.1:p.Arg264Leu | |
| NM_001285399.3:c.935G>T | NP_001272328.1:p.Arg312Leu | |
| NM_001285400.3:c.905G>T | NP_001272329.1:p.Arg302Leu | |
| NM_001285401.3:c.899G>T | NP_001272330.1:p.Arg300Leu | |
| NM_001285402.2:c.854G>T | NP_001272331.1:p.Arg285Leu | |
| NM_001285403.3:c.*942G>T | NP_001272332.1:n.*942G>T | |
| NM_014336.5:c.971G>T MANE Select | NP_055151.3:p.Arg324Leu | |
| NM_001285403.4:c.*942G>T | NP_001272332.1:n.*942G>T |