Linked Data
ClinVar Variation Id:
415966
ClinVar RCV Id:
RCV000456652
dbSNP Id:
rs781132536
ExAC:
12:116460340 C / T
gnomAD v2:
12-116460340-C-T
gnomAD v3:
12-116022535-C-T
gnomAD v4:
12-116022535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116022535C>T , CM000674.2:g.116022535C>T | GRCh38 |
| NC_000012.11:g.116460340C>T , CM000674.1:g.116460340C>T | GRCh37 |
| NC_000012.10:g.114944723C>T | NCBI36 |
| NG_023366.1:g.259652G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.546G>A MANE Select | ENSP00000281928.3:p.Glu182= | |
| ENST00000548743.2:c.516G>A | ENSP00000448553.2:p.Glu172= | |
| ENST00000647567.1:c.456G>A | ENSP00000497136.1:p.Glu152= | |
| ENST00000648737.1:n.310G>A | ||
| ENST00000650226.1:c.546G>A | ENSP00000496981.1:p.Glu182= | |
| ENST00000281928.7:c.546G>A | ENSP00000281928.3:p.Glu182= | |
| NM_015335.4:c.546G>A | NP_056150.1:p.Glu182= | |
| XM_011538080.1:c.546G>A | XP_011536382.1:p.Glu182= | |
| XM_011538081.1:c.546G>A | XP_011536383.1:p.Glu182= | |
| XM_011538082.1:c.516G>A | XP_011536384.1:p.Glu172= | |
| XM_011538080.2:c.546G>A | XP_011536382.1:p.Glu182= | |
| XM_011538081.2:c.546G>A | XP_011536383.1:p.Glu182= | |
| XM_011538082.2:c.516G>A | XP_011536384.1:p.Glu172= | |
| XM_017019090.1:c.546G>A | XP_016874579.1:p.Glu182= | |
| NM_015335.5:c.546G>A MANE Select | NP_056150.1:p.Glu182= |