Linked Data
dbSNP Id:
rs1938618487
gnomAD v3:
12-52516795-A-G
gnomAD v4:
12-52516795-A-G
COSMIC:
COSM6072983
MyVariant Identifiers:
chr12:g.52910579A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516795A>G , CM000674.2:g.52516795A>G | GRCh38 |
| NC_000012.11:g.52910579A>G , CM000674.1:g.52910579A>G | GRCh37 |
| NC_000012.10:g.51196846A>G | NCBI36 |
| NG_008297.1:g.8665T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1281T>C MANE Select | ENSP00000252242.4:p.Asp427= | |
| ENST00000252242.8:c.1281T>C | ENSP00000252242.4:p.Asp427= | |
| ENST00000547890.5:n.659T>C | ||
| ENST00000548409.5:c.403T>C | ||
| ENST00000549511.5:n.488T>C | ||
| ENST00000552629.5:n.1379T>C | ||
| NM_000424.3:c.1281T>C | NP_000415.2:p.Asp427= | |
| NM_000424.4:c.1281T>C MANE Select | NP_000415.2:p.Asp427= |