Linked Data
ClinVar Variation Id:
324613
dbSNP Id:
rs145304845
ExAC:
17:6329939 G / A
gnomAD v2:
17-6329939-G-A
gnomAD v3:
17-6426619-G-A
gnomAD v4:
17-6426619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426619G>A , CM000679.2:g.6426619G>A | GRCh38 |
| NC_000017.10:g.6329939G>A , CM000679.1:g.6329939G>A | GRCh37 |
| NC_000017.9:g.6270663G>A | NCBI36 |
| NG_008474.1:g.13581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.780C>T MANE Select | ENSP00000370521.3:p.His260= | |
| ENST00000250087.9:c.591C>T | ENSP00000250087.5:p.His197= | |
| ENST00000381128.2:c.*652C>T | ENSP00000370520.2:n.*652C>T | |
| ENST00000381129.7:c.780C>T | ENSP00000370521.3:p.His260= | |
| ENST00000570466.5:c.714C>T | ENSP00000461287.1:p.His238= | |
| ENST00000570584.5:c.251+7300C>T | ||
| ENST00000571740.5:c.756C>T | ENSP00000460134.1:p.His252= | |
| ENST00000574506.5:c.744C>T | ENSP00000458456.1:p.His248= | |
| ENST00000575265.5:c.780C>T | ENSP00000459673.1:p.His260= | |
| ENST00000576307.5:c.600C>T | ENSP00000459522.1:p.His200= | |
| ENST00000576776.5:c.708C>T | ENSP00000460827.1:p.His236= | |
| ENST00000621374.4:c.780C>T | ENSP00000481337.1:p.His260= | |
| NM_001033054.2:c.591C>T | NP_001028226.1:p.His197= | |
| NM_001033055.2:c.600C>T | NP_001028227.1:p.His200= | |
| NM_001285399.2:c.744C>T | NP_001272328.1:p.His248= | |
| NM_001285400.2:c.714C>T | NP_001272329.1:p.His238= | |
| NM_001285401.2:c.708C>T | NP_001272330.1:p.His236= | |
| NM_001285402.1:c.663C>T | NP_001272331.1:p.His221= | |
| NM_001285403.2:c.756C>T | NP_001272332.1:p.His252= | |
| NM_014336.4:c.780C>T | NP_055151.3:p.His260= | |
| NM_001033054.3:c.591C>T | NP_001028226.1:p.His197= | |
| NM_001033055.3:c.600C>T | NP_001028227.1:p.His200= | |
| NM_001285399.3:c.744C>T | NP_001272328.1:p.His248= | |
| NM_001285400.3:c.714C>T | NP_001272329.1:p.His238= | |
| NM_001285401.3:c.708C>T | NP_001272330.1:p.His236= | |
| NM_001285402.2:c.663C>T | NP_001272331.1:p.His221= | |
| NM_001285403.3:c.756C>T | NP_001272332.1:p.His252= | |
| NM_014336.5:c.780C>T MANE Select | NP_055151.3:p.His260= | |
| NM_001285403.4:c.756C>T | NP_001272332.1:p.His252= |