Linked Data
ClinVar Variation Id:
324595
dbSNP Id:
rs182504714
gnomAD v2:
17-6328390-C-A
gnomAD v3:
17-6425070-C-A
gnomAD v4:
17-6425070-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425070C>A , CM000679.2:g.6425070C>A | GRCh38 |
| NC_000017.10:g.6328390C>A , CM000679.1:g.6328390C>A | GRCh37 |
| NC_000017.9:g.6269114C>A | NCBI36 |
| NG_008474.1:g.15130G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.*390G>T MANE Select | ENSP00000370521.3:n.*390G>T | |
| ENST00000250087.9:c.*390G>T | ENSP00000250087.5:n.*390G>T | |
| ENST00000381128.2:c.*1417G>T | ENSP00000370520.2:n.*1417G>T | |
| ENST00000381129.7:c.*390G>T | ENSP00000370521.3:n.*390G>T | |
| ENST00000570584.5:c.251+8849G>T | ||
| ENST00000574506.5:c.*390G>T | ENSP00000458456.1:n.*390G>T | |
| NM_001033054.2:c.*390G>T | NP_001028226.1:n.*390G>T | |
| NM_001033055.2:c.*390G>T | NP_001028227.1:n.*390G>T | |
| NM_001285399.2:c.*390G>T | NP_001272328.1:n.*390G>T | |
| NM_001285400.2:c.*390G>T | NP_001272329.1:n.*390G>T | |
| NM_001285401.2:c.*390G>T | NP_001272330.1:n.*390G>T | |
| NM_001285402.1:c.*390G>T | NP_001272331.1:n.*390G>T | |
| NM_014336.4:c.*390G>T | NP_055151.3:n.*390G>T | |
| NM_001033054.3:c.*390G>T | NP_001028226.1:n.*390G>T | |
| NM_001033055.3:c.*390G>T | NP_001028227.1:n.*390G>T | |
| NM_001285399.3:c.*390G>T | NP_001272328.1:n.*390G>T | |
| NM_001285400.3:c.*390G>T | NP_001272329.1:n.*390G>T | |
| NM_001285401.3:c.*390G>T | NP_001272330.1:n.*390G>T | |
| NM_001285402.2:c.*390G>T | NP_001272331.1:n.*390G>T | |
| NM_014336.5:c.*390G>T MANE Select | NP_055151.3:n.*390G>T |