Linked Data
ClinVar Variation Id:
159716
dbSNP Id:
rs114176862
ExAC:
17:16221157 T / C
gnomAD v2:
17-16221157-T-C
gnomAD v3:
17-16317843-T-C
gnomAD v4:
17-16317843-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317843T>C , CM000679.2:g.16317843T>C | GRCh38 |
| NC_000017.10:g.16221157T>C , CM000679.1:g.16221157T>C | GRCh37 |
| NC_000017.9:g.16161882T>C | NCBI36 |
| NG_032651.1:g.105649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.595T>C MANE Select | ENSP00000225609.5:p.Leu199= | |
| ENST00000225609.9:c.595T>C | ENSP00000225609.5:p.Leu199= | |
| ENST00000395844.8:c.563T>C | ENSP00000379185.3:p.Leu188Pro | |
| ENST00000477745.5:n.593T>C | ||
| ENST00000488375.2:n.453T>C | ||
| ENST00000581006.5:c.426+17865T>C | ENSP00000462432.1:n.426+17865T>C | |
| ENST00000596678.2:c.137T>C | ENSP00000470064.2:p.Leu46Pro | |
| ENST00000613719.1:n.987+155T>C | ||
| NM_004278.3:c.595T>C | NP_004269.1:p.Leu199= | |
| XR_243571.2:n.1593T>C | ||
| XR_429826.2:n.1040T>C | ||
| XM_017025349.1:c.*759T>C | XP_016880838.1:n.*759T>C | |
| XM_017025350.1:c.*759T>C | XP_016880839.1:n.*759T>C | |
| XM_017025351.1:c.*206T>C | XP_016880840.1:n.*206T>C | |
| XM_017025352.1:c.595T>C | XP_016880841.1:p.Leu199= | |
| XM_017025353.1:c.595T>C | XP_016880842.1:p.Leu199= | |
| XM_017025354.1:c.563T>C | XP_016880843.1:p.Leu188Pro | |
| XM_017025355.1:c.563T>C | XP_016880844.1:p.Leu188Pro | |
| XM_017025356.1:c.*1072T>C | XP_016880845.1:n.*1072T>C | |
| NM_004278.4:c.595T>C MANE Select | NP_004269.1:p.Leu199= |