Linked Data
ClinVar Variation Id:
1990
ClinVar RCV Id:
RCV003987308
dbSNP Id:
rs121912610
ExAC:
9:14784492 C / T
gnomAD v2:
9-14784492-C-T
gnomAD v3:
9-14784494-C-T
gnomAD v4:
9-14784494-C-T
PubMed:
PMID:19732862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14784494C>T , CM000671.2:g.14784494C>T | GRCh38 |
| NC_000009.11:g.14784492C>T , CM000671.1:g.14784492C>T | GRCh37 |
| NC_000009.10:g.14774492C>T | NCBI36 |
| NG_017005.2:g.130743G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380880.4:c.4318G>A MANE Select | ENSP00000370262.3:p.Gly1440Ser | |
| ENST00000380875.7:c.3981+8249G>A | ENSP00000370257.3:n.3981+8249G>A | |
| ENST00000380880.3:c.4318G>A | ENSP00000370262.3:p.Gly1440Ser | |
| ENST00000422223.6:c.4318G>A | ENSP00000412940.2:p.Gly1440Ser | |
| ENST00000466679.1:n.348G>A | ||
| ENST00000485068.5:n.141G>A | ||
| ENST00000497634.2:n.479G>A | ||
| NM_144966.5:c.4318G>A | NP_659403.4:p.Gly1440Ser | |
| XM_005251382.2:c.4318G>A | XP_005251439.1:p.Gly1440Ser | |
| XM_006716726.2:c.4318G>A | XP_006716789.1:p.Gly1440Ser | |
| XM_011517748.1:c.4318G>A | XP_011516050.1:p.Gly1440Ser | |
| XM_011517749.1:c.4318G>A | XP_011516051.1:p.Gly1440Ser | |
| XM_011517750.1:c.4318G>A | XP_011516052.1:p.Gly1440Ser | |
| XM_011517751.1:c.4318G>A | XP_011516053.1:p.Gly1440Ser | |
| XM_011517752.1:c.4318G>A | XP_011516054.1:p.Gly1440Ser | |
| XM_011517753.1:c.4318G>A | XP_011516055.1:p.Gly1440Ser | |
| XM_011517754.1:c.4318G>A | XP_011516056.1:p.Gly1440Ser | |
| XM_011517755.1:c.4318G>A | XP_011516057.1:p.Gly1440Ser | |
| XM_011517756.1:c.4318G>A | XP_011516058.1:p.Gly1440Ser | |
| XR_929188.1:n.5104G>A | ||
| XR_929487.1:n.89+4477C>T | ||
| XM_005251382.4:c.4318G>A | XP_005251439.1:p.Gly1440Ser | |
| XM_005251384.4:c.-128G>A | XP_005251441.1:n.-128G>A | |
| XM_006716729.3:c.-125G>A | XP_006716792.1:n.-125G>A | |
| XM_017014316.2:c.4345G>A | XP_016869805.1:p.Gly1449Ser | |
| XM_017014317.1:c.4345G>A | XP_016869806.1:p.Gly1449Ser | |
| XM_017014319.2:c.4345G>A | XP_016869808.1:p.Gly1449Ser | |
| XM_017014320.2:c.4345G>A | XP_016869809.1:p.Gly1449Ser | |
| XM_017014321.2:c.4345G>A | XP_016869810.1:p.Gly1449Ser | |
| XM_017014322.1:c.4345G>A | XP_016869811.1:p.Gly1449Ser | |
| XM_017014323.1:c.4345G>A | XP_016869812.1:p.Gly1449Ser | |
| XM_017014324.2:c.4345G>A | XP_016869813.1:p.Gly1449Ser | |
| XM_017014325.2:c.4345G>A | XP_016869814.1:p.Gly1449Ser | |
| XM_017014326.1:c.3937G>A | XP_016869815.1:p.Gly1313Ser | |
| XM_017014327.2:c.3421G>A | XP_016869816.1:p.Gly1141Ser | |
| XM_017014328.2:c.4345G>A | XP_016869817.1:p.Gly1449Ser | |
| XM_017014329.2:c.4345G>A | XP_016869818.1:p.Gly1449Ser | |
| XR_001746194.2:n.5131G>A | ||
| XR_001746195.2:n.5131G>A | ||
| XR_001746197.2:n.5127G>A | ||
| NR_163238.1:n.4797+8249G>A | ||
| NR_163239.1:n.5073G>A | ||
| NM_001379081.2:c.4318G>A MANE Select | NP_001366010.1:p.Gly1440Ser | |
| NM_144966.7:c.4318G>A | NP_659403.4:p.Gly1440Ser | |
| NR_163238.2:n.4797+8249G>A | ||
| NR_163239.2:n.5073G>A |