Linked Data
ClinVar Variation Id:
468551
ClinVar RCV Id:
RCV000546006
dbSNP Id:
rs73278523
ExAC:
17:26864264 G / A
gnomAD v2:
17-26864264-G-A
gnomAD v3:
17-28537246-G-A
gnomAD v4:
17-28537246-G-A
ERepo:
CA8459619/MONDO:0011132/113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28537246G>A , CM000679.2:g.28537246G>A | GRCh38 |
| NC_000017.10:g.26864264G>A , CM000679.1:g.26864264G>A | GRCh37 |
| NC_000017.9:g.23888391G>A | NCBI36 |
| NG_007260.1:g.18306G>A , LRG_61:g.18306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577936.2:c.1757G>A | ENSP00000462159.2:p.Cys586Tyr | |
| ENST00000579795.6:c.1757G>A MANE Select | ENSP00000464645.1:p.Cys586Tyr | |
| ENST00000226247.2:c.1757G>A | ENSP00000226247.2:p.Cys586Tyr | |
| ENST00000481916.6:c.*1195+66805C>T | ENSP00000436369.2:n.*1195+66805C>T | |
| ENST00000579795.5:c.1757G>A | ENSP00000464645.1:p.Cys586Tyr | |
| NM_003593.2:c.1757G>A , LRG_61t1:c.1757G>A | NP_003584.2:p.Cys586Tyr | |
| XM_005258046.3:c.1757G>A | XP_005258103.1:p.Cys586Tyr | |
| XM_011525354.1:c.1814G>A | XP_011523656.1:p.Cys605Tyr | |
| XM_011525355.1:c.1811G>A | XP_011523657.1:p.Cys604Tyr | |
| XM_011525356.1:c.1811G>A | XP_011523658.1:p.Cys604Tyr | |
| XM_011525357.1:c.1793G>A | XP_011523659.1:p.Cys598Tyr | |
| XM_011525358.1:c.1760G>A | XP_011523660.1:p.Cys587Tyr | |
| XM_011525359.1:c.1760G>A | XP_011523661.1:p.Cys587Tyr | |
| XM_011525360.1:c.1760G>A | XP_011523662.1:p.Cys587Tyr | |
| XM_011525361.1:c.1757G>A | XP_011523663.1:p.Cys586Tyr | |
| XM_011525362.1:c.1757G>A | XP_011523664.1:p.Cys586Tyr | |
| XM_011525363.1:c.1568G>A | XP_011523665.1:p.Cys523Tyr | |
| XM_011525364.1:c.1292G>A | XP_011523666.1:p.Cys431Tyr | |
| XM_011525365.1:c.1322G>A | XP_011523667.1:p.Cys441Tyr | |
| XM_011525366.1:c.1214G>A | XP_011523668.1:p.Cys405Tyr | |
| XM_011525367.1:c.1199G>A | XP_011523669.1:p.Cys400Tyr | |
| XM_011525368.1:c.1121G>A | XP_011523670.1:p.Cys374Tyr | |
| XM_011525369.1:c.1121G>A | XP_011523671.1:p.Cys374Tyr | |
| XM_011525370.1:c.1121G>A | XP_011523672.1:p.Cys374Tyr | |
| XM_011525368.2:c.1121G>A | XP_011523670.1:p.Cys374Tyr | |
| XM_011525369.2:c.1121G>A | XP_011523671.1:p.Cys374Tyr | |
| XM_011525370.2:c.1121G>A | XP_011523672.1:p.Cys374Tyr | |
| XM_017025228.1:c.1757G>A | XP_016880717.1:p.Cys586Tyr | |
| XM_017025229.1:c.1514G>A | XP_016880718.1:p.Cys505Tyr | |
| XM_017025230.1:c.1268G>A | XP_016880719.1:p.Cys423Tyr | |
| NM_001369369.1:c.1757G>A MANE Select | NP_001356298.1:p.Cys586Tyr | |
| NM_003593.3:c.1757G>A | NP_003584.2:p.Cys586Tyr |