Linked Data
ClinVar Variation Id:
739115
ClinVar RCV Id:
RCV000915062
dbSNP Id:
rs142446757
ExAC:
12:52910477 C / T
gnomAD v2:
12-52910477-C-T
gnomAD v3:
12-52516693-C-T
gnomAD v4:
12-52516693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516693C>T , CM000674.2:g.52516693C>T | GRCh38 |
| NC_000012.11:g.52910477C>T , CM000674.1:g.52910477C>T | GRCh37 |
| NC_000012.10:g.51196744C>T | NCBI36 |
| NG_008297.1:g.8767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1383G>A MANE Select | ENSP00000252242.4:p.Leu461= | |
| ENST00000252242.8:c.1383G>A | ENSP00000252242.4:p.Leu461= | |
| ENST00000547890.5:n.761G>A | ||
| ENST00000548409.5:c.505G>A | ||
| ENST00000549511.5:n.590G>A | ||
| ENST00000552629.5:n.1481G>A | ||
| NM_000424.3:c.1383G>A | NP_000415.2:p.Leu461= | |
| NM_000424.4:c.1383G>A MANE Select | NP_000415.2:p.Leu461= |