Linked Data
dbSNP Id:
rs765397274
ExAC:
12:52910549 C / T
gnomAD v2:
12-52910549-C-T
gnomAD v3:
12-52516765-C-T
gnomAD v4:
12-52516765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516765C>T , CM000674.2:g.52516765C>T | GRCh38 |
| NC_000012.11:g.52910549C>T , CM000674.1:g.52910549C>T | GRCh37 |
| NC_000012.10:g.51196816C>T | NCBI36 |
| NG_008297.1:g.8695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1311G>A MANE Select | ENSP00000252242.4:p.Glu437= | |
| ENST00000252242.8:c.1311G>A | ENSP00000252242.4:p.Glu437= | |
| ENST00000547890.5:n.689G>A | ||
| ENST00000548409.5:c.433G>A | ||
| ENST00000549511.5:n.518G>A | ||
| ENST00000552629.5:n.1409G>A | ||
| NM_000424.3:c.1311G>A | NP_000415.2:p.Glu437= | |
| NM_000424.4:c.1311G>A MANE Select | NP_000415.2:p.Glu437= |