Linked Data
ClinVar Variation Id:
2528376
ClinVar RCV Id:
RCV003275203
dbSNP Id:
rs537825066
ExAC:
12:58158245 A / T
gnomAD v2:
12-58158245-A-T
gnomAD v3:
12-57764462-A-T
gnomAD v4:
12-57764462-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764462A>T , CM000674.2:g.57764462A>T | GRCh38 |
| NC_000012.11:g.58158245A>T , CM000674.1:g.58158245A>T | GRCh37 |
| NC_000012.10:g.56444512A>T | NCBI36 |
| NG_007076.1:g.7732T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1133T>A | ENSP00000518840.1:p.Leu378Gln | |
| ENST00000713545.1:c.*57T>A | ENSP00000518841.1:n.*57T>A | |
| ENST00000228606.9:c.1052T>A MANE Select | ENSP00000228606.4:p.Leu351Gln | |
| ENST00000228606.8:c.1052T>A | ENSP00000228606.4:p.Leu351Gln | |
| ENST00000546567.5:c.347T>A | ENSP00000449472.1:p.Leu116Gln | |
| ENST00000547344.5:n.1191T>A | ||
| NM_000785.3:c.1052T>A | NP_000776.1:p.Leu351Gln | |
| NM_000785.4:c.1052T>A MANE Select | NP_000776.1:p.Leu351Gln |