Linked Data
dbSNP Id:
rs928947516
gnomAD v2:
3-48606087-G-A
gnomAD v3:
3-48568654-G-A
gnomAD v4:
3-48568654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568654G>A , CM000665.2:g.48568654G>A | GRCh38 |
| NC_000003.11:g.48606087G>A , CM000665.1:g.48606087G>A | GRCh37 |
| NC_000003.10:g.48581091G>A | NCBI36 |
| NG_007065.1:g.31599C>T , LRG_286:g.31599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7759-120C>T MANE Select | ENSP00000506558.1:n.7759-120C>T | |
| ENST00000328333.12:c.7759-120C>T | ENSP00000332371.8:n.7759-120C>T | |
| ENST00000459756.5:n.582-120C>T | ||
| ENST00000467985.1:n.605-120C>T | ||
| ENST00000487017.5:n.4398-120C>T | ||
| NM_000094.3:c.7759-120C>T , LRG_286t1:c.7759-120C>T | NP_000085.1:n.7759-120C>T | |
| XM_011533336.1:c.7786-120C>T | XP_011531638.1:n.7786-120C>T | |
| XM_011533337.1:c.7759-120C>T | XP_011531639.1:n.7759-120C>T | |
| XM_011533338.1:c.7726-120C>T | XP_011531640.1:n.7726-120C>T | |
| XM_011533339.1:c.7786-120C>T | XP_011531641.1:n.7786-120C>T | |
| XR_940369.1:n.7822-120C>T | ||
| XR_940370.1:n.7822-120C>T | ||
| XR_940371.1:n.7822-120C>T | ||
| XR_940372.1:n.7796-120C>T | ||
| XM_017005688.1:c.7699-120C>T | XP_016861177.1:n.7699-120C>T | |
| XM_017005689.1:c.7759-120C>T | XP_016861178.1:n.7759-120C>T | |
| XR_001740003.1:n.7795-120C>T | ||
| XR_001740004.1:n.7795-120C>T | ||
| XR_001740005.1:n.7795-120C>T | ||
| XR_001740006.1:n.7769-120C>T | ||
| NM_000094.4:c.7759-120C>T MANE Select | NP_000085.1:n.7759-120C>T |