Linked Data
ClinVar Variation Id:
2068143
ClinVar RCV Id:
RCV002970931
dbSNP Id:
rs201570681
ExAC:
17:6328930 G / A
gnomAD v2:
17-6328930-G-A
gnomAD v3:
17-6425610-G-A
gnomAD v4:
17-6425610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425610G>A , CM000679.2:g.6425610G>A | GRCh38 |
| NC_000017.10:g.6328930G>A , CM000679.1:g.6328930G>A | GRCh37 |
| NC_000017.9:g.6269654G>A | NCBI36 |
| NG_008474.1:g.14590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.1005C>T MANE Select | ENSP00000370521.3:p.Pro335= | |
| ENST00000250087.9:c.816C>T | ENSP00000250087.5:p.Pro272= | |
| ENST00000381128.2:c.*877C>T | ENSP00000370520.2:n.*877C>T | |
| ENST00000381129.7:c.1005C>T | ENSP00000370521.3:p.Pro335= | |
| ENST00000570466.5:c.939C>T | ENSP00000461287.1:p.Pro313= | |
| ENST00000570584.5:c.251+8309C>T | ||
| ENST00000574506.5:c.969C>T | ENSP00000458456.1:p.Pro323= | |
| ENST00000575265.5:c.*976C>T | ENSP00000459673.1:n.*976C>T | |
| ENST00000576307.5:c.825C>T | ENSP00000459522.1:p.Pro275= | |
| ENST00000576776.5:c.933C>T | ENSP00000460827.1:p.Pro311= | |
| ENST00000621374.4:c.*23C>T | ENSP00000481337.1:n.*23C>T | |
| NM_001033054.2:c.816C>T | NP_001028226.1:p.Pro272= | |
| NM_001033055.2:c.825C>T | NP_001028227.1:p.Pro275= | |
| NM_001285399.2:c.969C>T | NP_001272328.1:p.Pro323= | |
| NM_001285400.2:c.939C>T | NP_001272329.1:p.Pro313= | |
| NM_001285401.2:c.933C>T | NP_001272330.1:p.Pro311= | |
| NM_001285402.1:c.888C>T | NP_001272331.1:p.Pro296= | |
| NM_014336.4:c.1005C>T | NP_055151.3:p.Pro335= | |
| NM_001033054.3:c.816C>T | NP_001028226.1:p.Pro272= | |
| NM_001033055.3:c.825C>T | NP_001028227.1:p.Pro275= | |
| NM_001285399.3:c.969C>T | NP_001272328.1:p.Pro323= | |
| NM_001285400.3:c.939C>T | NP_001272329.1:p.Pro313= | |
| NM_001285401.3:c.933C>T | NP_001272330.1:p.Pro311= | |
| NM_001285402.2:c.888C>T | NP_001272331.1:p.Pro296= | |
| NM_001285403.3:c.*976C>T | NP_001272332.1:n.*976C>T | |
| NM_014336.5:c.1005C>T MANE Select | NP_055151.3:p.Pro335= | |
| NM_001285403.4:c.*976C>T | NP_001272332.1:n.*976C>T |