Linked Data
ClinVar Variation Id:
88738
ClinVar RCV Id:
RCV000074397
dbSNP Id:
rs397518474
gnomAD v2:
15-28510853-G-A
gnomAD v3:
15-28265707-G-A
gnomAD v4:
15-28265707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28265707G>A , CM000677.2:g.28265707G>A | GRCh38 |
| NC_000015.9:g.28510853G>A , CM000677.1:g.28510853G>A | GRCh37 |
| NC_000015.8:g.26184448G>A | NCBI36 |
| NG_016355.1:g.61443C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.1781C>T MANE Select | ENSP00000261609.8:p.Pro594Leu | |
| ENST00000261609.11:c.1781C>T | ENSP00000261609.7:p.Pro594Leu | |
| ENST00000564734.5:c.*1651C>T | ENSP00000456237.1:n.*1651C>T | |
| NM_004667.5:c.1781C>T | NP_004658.3:p.Pro594Leu | |
| XM_005268276.3:c.1667C>T | XP_005268333.1:p.Pro556Leu | |
| XM_005268277.3:c.1667C>T | XP_005268334.1:p.Pro556Leu | |
| XM_006720726.2:c.1781C>T | XP_006720789.1:p.Pro594Leu | |
| XM_006720727.2:c.1523C>T | XP_006720790.1:p.Pro508Leu | |
| XM_011522131.1:c.1298C>T | XP_011520433.1:p.Pro433Leu | |
| XM_011522132.1:c.107+6508C>T | XP_011520434.1:n.107+6508C>T | |
| XM_011522133.1:c.323-26935C>T | XP_011520435.1:n.323-26935C>T | |
| XM_011522135.1:c.1781C>T | XP_011520437.1:p.Pro594Leu | |
| XM_011522136.1:c.1781C>T | XP_011520438.1:p.Pro594Leu | |
| XM_011522137.1:c.1781C>T | XP_011520439.1:p.Pro594Leu | |
| XR_931930.1:n.1910C>T | ||
| XR_931931.1:n.1910C>T | ||
| XM_005268276.5:c.1667C>T | XP_005268333.1:p.Pro556Leu | |
| XM_006720726.3:c.1781C>T | XP_006720789.1:p.Pro594Leu | |
| XM_006720727.3:c.1523C>T | XP_006720790.1:p.Pro508Leu | |
| XM_017022695.1:c.1667C>T | XP_016878184.1:p.Pro556Leu | |
| XM_017022696.1:c.1667C>T | XP_016878185.1:p.Pro556Leu | |
| XR_001751410.1:n.1911C>T | ||
| XR_931930.2:n.1911C>T | ||
| NM_004667.6:c.1781C>T MANE Select | NP_004658.3:p.Pro594Leu |