Linked Data
ClinVar Variation Id:
324617
dbSNP Id:
rs772911646
ExAC:
17:6330227 T / C
gnomAD v2:
17-6330227-T-C
gnomAD v3:
17-6426907-T-C
gnomAD v4:
17-6426907-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426907T>C , CM000679.2:g.6426907T>C | GRCh38 |
| NC_000017.10:g.6330227T>C , CM000679.1:g.6330227T>C | GRCh37 |
| NC_000017.9:g.6270951T>C | NCBI36 |
| NG_008474.1:g.13293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.616A>G MANE Select | ENSP00000370521.3:p.Ile206Val | |
| ENST00000250087.9:c.427A>G | ENSP00000250087.5:p.Ile143Val | |
| ENST00000381128.2:c.*488A>G | ENSP00000370520.2:n.*488A>G | |
| ENST00000381129.7:c.616A>G | ENSP00000370521.3:p.Ile206Val | |
| ENST00000570466.5:c.550A>G | ENSP00000461287.1:p.Ile184Val | |
| ENST00000570584.5:c.251+7012A>G | ||
| ENST00000571740.5:c.592A>G | ENSP00000460134.1:p.Ile198Val | |
| ENST00000574506.5:c.580A>G | ENSP00000458456.1:p.Ile194Val | |
| ENST00000574913.1:c.628A>G | ENSP00000460672.1:p.Ile210Val | |
| ENST00000575265.5:c.616A>G | ENSP00000459673.1:p.Ile206Val | |
| ENST00000576307.5:c.436A>G | ENSP00000459522.1:p.Ile146Val | |
| ENST00000576776.5:c.616A>G | ENSP00000460827.1:p.Ile206Val | |
| ENST00000621374.4:c.616A>G | ENSP00000481337.1:p.Ile206Val | |
| NM_001033054.2:c.427A>G | NP_001028226.1:p.Ile143Val | |
| NM_001033055.2:c.436A>G | NP_001028227.1:p.Ile146Val | |
| NM_001285399.2:c.580A>G | NP_001272328.1:p.Ile194Val | |
| NM_001285400.2:c.550A>G | NP_001272329.1:p.Ile184Val | |
| NM_001285401.2:c.616A>G | NP_001272330.1:p.Ile206Val | |
| NM_001285402.1:c.499A>G | NP_001272331.1:p.Ile167Val | |
| NM_001285403.2:c.592A>G | NP_001272332.1:p.Ile198Val | |
| NM_014336.4:c.616A>G | NP_055151.3:p.Ile206Val | |
| NM_001033054.3:c.427A>G | NP_001028226.1:p.Ile143Val | |
| NM_001033055.3:c.436A>G | NP_001028227.1:p.Ile146Val | |
| NM_001285399.3:c.580A>G | NP_001272328.1:p.Ile194Val | |
| NM_001285400.3:c.550A>G | NP_001272329.1:p.Ile184Val | |
| NM_001285401.3:c.616A>G | NP_001272330.1:p.Ile206Val | |
| NM_001285402.2:c.499A>G | NP_001272331.1:p.Ile167Val | |
| NM_001285403.3:c.592A>G | NP_001272332.1:p.Ile198Val | |
| NM_014336.5:c.616A>G MANE Select | NP_055151.3:p.Ile206Val | |
| NM_001285403.4:c.592A>G | NP_001272332.1:p.Ile198Val |