Linked Data
ClinVar Variation Id:
2314253
ClinVar RCV Id:
RCV002897259
dbSNP Id:
rs751138150
ExAC:
12:32900217 T / A
gnomAD v2:
12-32900217-T-A
gnomAD v4:
12-32747283-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32747283T>A , CM000674.2:g.32747283T>A | GRCh38 |
| NC_000012.11:g.32900217T>A , CM000674.1:g.32900217T>A | GRCh37 |
| NC_000012.10:g.32791484T>A | NCBI36 |
| NG_012219.1:g.73081T>A | |
| NG_028122.1:g.13671A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.1355A>T MANE Select | ENSP00000320658.8:p.Gln452Leu | |
| ENST00000324868.12:c.1355A>T | ENSP00000320658.8:p.Gln452Leu | |
| ENST00000548490.1:c.1242A>T | ENSP00000447710.1:n.1242A>T | |
| ENST00000551673.5:n.252A>T | ||
| NM_001040436.2:c.1355A>T | NP_001035526.1:p.Gln452Leu | |
| XR_242891.3:n.1442A>T | ||
| XR_242892.3:n.1442A>T | ||
| XR_429036.1:n.1442A>T | ||
| XR_931296.1:n.1442A>T | ||
| XR_931297.1:n.1442A>T | ||
| XR_931298.1:n.1442A>T | ||
| XR_931299.1:n.1442A>T | ||
| XR_001748730.2:n.1939A>T | ||
| XR_002957331.1:n.1939A>T | ||
| XR_242892.5:n.1939A>T | ||
| XR_931296.3:n.1939A>T | ||
| NM_001040436.3:c.1355A>T MANE Select | NP_001035526.1:p.Gln452Leu |