Linked Data
ClinVar Variation Id:
2689091
ClinVar RCV Id:
RCV003487842
dbSNP Id:
rs763640629
ExAC:
9:14842398 C / T
gnomAD v2:
9-14842398-C-T
gnomAD v3:
9-14842400-C-T
gnomAD v4:
9-14842400-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14842400C>T , CM000671.2:g.14842400C>T | GRCh38 |
| NC_000009.11:g.14842398C>T , CM000671.1:g.14842398C>T | GRCh37 |
| NC_000009.10:g.14832398C>T | NCBI36 |
| NG_017005.2:g.72837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380880.4:c.1654G>A MANE Select | ENSP00000370262.3:p.Ala552Thr | |
| ENST00000380875.7:c.1654G>A | ENSP00000370257.3:p.Ala552Thr | |
| ENST00000380880.3:c.1654G>A | ENSP00000370262.3:p.Ala552Thr | |
| ENST00000422223.6:c.1654G>A | ENSP00000412940.2:p.Ala552Thr | |
| NM_144966.5:c.1654G>A | NP_659403.4:p.Ala552Thr | |
| XM_005251382.2:c.1654G>A | XP_005251439.1:p.Ala552Thr | |
| XM_006716726.2:c.1654G>A | XP_006716789.1:p.Ala552Thr | |
| XM_006716728.2:c.1654G>A | XP_006716791.1:p.Ala552Thr | |
| XM_011517748.1:c.1654G>A | XP_011516050.1:p.Ala552Thr | |
| XM_011517749.1:c.1654G>A | XP_011516051.1:p.Ala552Thr | |
| XM_011517750.1:c.1654G>A | XP_011516052.1:p.Ala552Thr | |
| XM_011517751.1:c.1654G>A | XP_011516053.1:p.Ala552Thr | |
| XM_011517752.1:c.1654G>A | XP_011516054.1:p.Ala552Thr | |
| XM_011517753.1:c.1654G>A | XP_011516055.1:p.Ala552Thr | |
| XM_011517754.1:c.1654G>A | XP_011516056.1:p.Ala552Thr | |
| XM_011517755.1:c.1654G>A | XP_011516057.1:p.Ala552Thr | |
| XM_011517756.1:c.1654G>A | XP_011516058.1:p.Ala552Thr | |
| XM_011517757.1:c.1654G>A | XP_011516059.1:p.Ala552Thr | |
| XR_929188.1:n.2440G>A | ||
| XR_929190.1:n.2440G>A | ||
| XM_005251382.4:c.1654G>A | XP_005251439.1:p.Ala552Thr | |
| XM_017014316.2:c.1681G>A | XP_016869805.1:p.Ala561Thr | |
| XM_017014317.1:c.1681G>A | XP_016869806.1:p.Ala561Thr | |
| XM_017014319.2:c.1681G>A | XP_016869808.1:p.Ala561Thr | |
| XM_017014320.2:c.1681G>A | XP_016869809.1:p.Ala561Thr | |
| XM_017014321.2:c.1681G>A | XP_016869810.1:p.Ala561Thr | |
| XM_017014322.1:c.1681G>A | XP_016869811.1:p.Ala561Thr | |
| XM_017014323.1:c.1681G>A | XP_016869812.1:p.Ala561Thr | |
| XM_017014324.2:c.1681G>A | XP_016869813.1:p.Ala561Thr | |
| XM_017014325.2:c.1681G>A | XP_016869814.1:p.Ala561Thr | |
| XM_017014326.1:c.1273G>A | XP_016869815.1:p.Ala425Thr | |
| XM_017014327.2:c.757G>A | XP_016869816.1:p.Ala253Thr | |
| XM_017014328.2:c.1681G>A | XP_016869817.1:p.Ala561Thr | |
| XM_017014329.2:c.1681G>A | XP_016869818.1:p.Ala561Thr | |
| XM_017014330.2:c.1681G>A | XP_016869819.1:p.Ala561Thr | |
| XR_001746194.2:n.2467G>A | ||
| XR_001746195.2:n.2467G>A | ||
| XR_001746196.2:n.2467G>A | ||
| XR_001746197.2:n.2467G>A | ||
| NR_163238.1:n.2470G>A | ||
| NR_163239.1:n.2414G>A | ||
| NM_001379081.2:c.1654G>A MANE Select | NP_001366010.1:p.Ala552Thr | |
| NM_144966.7:c.1654G>A | NP_659403.4:p.Ala552Thr | |
| NR_163238.2:n.2470G>A | ||
| NR_163239.2:n.2414G>A |