Linked Data
MyVariant Identifiers:
chr12:g.52827603G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433819G>C , CM000674.2:g.52433819G>C | GRCh38 |
| NC_000012.11:g.52827603G>C , CM000674.1:g.52827603G>C | GRCh37 |
| NC_000012.10:g.51113870G>C | NCBI36 |
| NG_008403.1:g.5508C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.486C>G MANE Select | ENSP00000252245.5:p.Ser162= | |
| ENST00000252245.5:c.486C>G | ENSP00000252245.5:p.Ser162= | |
| NM_004693.2:c.486C>G | NP_004684.2:p.Ser162= | |
| NM_004693.3:c.486C>G MANE Select | NP_004684.2:p.Ser162= |