Linked Data
ClinVar Variation Id:
65711
dbSNP Id:
rs142326926
ExAC:
17:6329935 C / T
gnomAD v2:
17-6329935-C-T
gnomAD v3:
17-6426615-C-T
gnomAD v4:
17-6426615-C-T
PubMed:
PMID:20301475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426615C>T , CM000679.2:g.6426615C>T | GRCh38 |
| NC_000017.10:g.6329935C>T , CM000679.1:g.6329935C>T | GRCh37 |
| NC_000017.9:g.6270659C>T | NCBI36 |
| NG_008474.1:g.13585G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.784G>A MANE Select | ENSP00000370521.3:p.Gly262Ser | |
| ENST00000250087.9:c.595G>A | ENSP00000250087.5:p.Gly199Ser | |
| ENST00000381128.2:c.*656G>A | ENSP00000370520.2:n.*656G>A | |
| ENST00000381129.7:c.784G>A | ENSP00000370521.3:p.Gly262Ser | |
| ENST00000570466.5:c.718G>A | ENSP00000461287.1:p.Gly240Ser | |
| ENST00000570584.5:c.251+7304G>A | ||
| ENST00000571740.5:c.760G>A | ENSP00000460134.1:p.Gly254Ser | |
| ENST00000574506.5:c.748G>A | ENSP00000458456.1:p.Gly250Ser | |
| ENST00000575265.5:c.784G>A | ENSP00000459673.1:p.Gly262Ser | |
| ENST00000576307.5:c.604G>A | ENSP00000459522.1:p.Gly202Ser | |
| ENST00000576776.5:c.712G>A | ENSP00000460827.1:p.Gly238Ser | |
| ENST00000621374.4:c.784G>A | ENSP00000481337.1:p.Gly262Ser | |
| NM_001033054.2:c.595G>A | NP_001028226.1:p.Gly199Ser | |
| NM_001033055.2:c.604G>A | NP_001028227.1:p.Gly202Ser | |
| NM_001285399.2:c.748G>A | NP_001272328.1:p.Gly250Ser | |
| NM_001285400.2:c.718G>A | NP_001272329.1:p.Gly240Ser | |
| NM_001285401.2:c.712G>A | NP_001272330.1:p.Gly238Ser | |
| NM_001285402.1:c.667G>A | NP_001272331.1:p.Gly223Ser | |
| NM_001285403.2:c.760G>A | NP_001272332.1:p.Gly254Ser | |
| NM_014336.4:c.784G>A | NP_055151.3:p.Gly262Ser | |
| NM_001033054.3:c.595G>A | NP_001028226.1:p.Gly199Ser | |
| NM_001033055.3:c.604G>A | NP_001028227.1:p.Gly202Ser | |
| NM_001285399.3:c.748G>A | NP_001272328.1:p.Gly250Ser | |
| NM_001285400.3:c.718G>A | NP_001272329.1:p.Gly240Ser | |
| NM_001285401.3:c.712G>A | NP_001272330.1:p.Gly238Ser | |
| NM_001285402.2:c.667G>A | NP_001272331.1:p.Gly223Ser | |
| NM_001285403.3:c.760G>A | NP_001272332.1:p.Gly254Ser | |
| NM_014336.5:c.784G>A MANE Select | NP_055151.3:p.Gly262Ser | |
| NM_001285403.4:c.760G>A | NP_001272332.1:p.Gly254Ser |