Linked Data
ClinVar Variation Id:
332656
ClinVar RCV Id:
RCV000265480
dbSNP Id:
rs886055211
gnomAD v4:
2-178451743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178451743G>T , CM000664.2:g.178451743G>T | GRCh38 |
| NC_000002.11:g.179316470G>T , CM000664.1:g.179316470G>T | GRCh37 |
| NC_000002.10:g.179024716G>T | NCBI36 |
| NG_009053.1:g.4489C>A | |
| NG_012186.1:g.5308G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642492.1:c.-584G>T | ENSP00000496267.1:n.-584G>T | |
| ENST00000643738.1:c.-473G>T | ENSP00000493684.1:n.-473G>T | |
| ENST00000644554.1:c.-595G>T | ENSP00000495037.1:n.-595G>T | |
| ENST00000644580.2:c.-49G>T MANE Select | ENSP00000495855.2:n.-49G>T | |
| ENST00000645817.1:c.-361G>T | ENSP00000495731.1:n.-361G>T | |
| ENST00000647226.1:c.-584G>T | ENSP00000496024.1:n.-584G>T | |
| ENST00000409117.7:c.-49G>T | ENSP00000386647.3:n.-49G>T | |
| NM_001042702.3:c.-49G>T | NP_001036167.1:n.-49G>T | |
| XM_005246627.1:c.-98G>T | XP_005246684.1:n.-98G>T | |
| XM_005246629.2:c.-15G>T | XP_005246686.1:n.-15G>T | |
| XM_011511248.1:c.-49G>T | XP_011509550.1:n.-49G>T | |
| XM_011511249.1:c.-293G>T | XP_011509551.1:n.-293G>T | |
| XM_011511250.1:c.-361G>T | XP_011509552.1:n.-361G>T | |
| XM_011511251.1:c.-267+1135G>T | XP_011509553.1:n.-267+1135G>T | |
| NM_001042702.4:c.-49G>T | NP_001036167.1:n.-49G>T | |
| NM_001353775.1:c.-98G>T | NP_001340704.1:n.-98G>T | |
| NM_001353777.1:c.-361G>T | NP_001340706.1:n.-361G>T | |
| XM_005246629.4:c.-15G>T | XP_005246686.1:n.-15G>T | |
| XM_011511249.3:c.-293G>T | XP_011509551.1:n.-293G>T | |
| XM_024452927.1:c.-584G>T | XP_024308695.1:n.-584G>T | |
| XR_001738753.2:n.146G>T | ||
| XR_002959300.1:n.146G>T | ||
| NM_001042702.5:c.-49G>T MANE Select | NP_001036167.1:n.-49G>T | |
| NM_001353775.2:c.-98G>T | NP_001340704.1:n.-98G>T |