Linked Data
MyVariant Identifiers:
chr12:g.52913613T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519829T>C , CM000674.2:g.52519829T>C | GRCh38 |
| NC_000012.11:g.52913613T>C , CM000674.1:g.52913613T>C | GRCh37 |
| NC_000012.10:g.51199880T>C | NCBI36 |
| NG_008297.1:g.5631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.468A>G MANE Select | ENSP00000252242.4:p.Gln156= | |
| ENST00000252242.8:c.468A>G | ENSP00000252242.4:p.Gln156= | |
| ENST00000549420.1:c.138A>G | ENSP00000447209.1:p.Gln46= | |
| ENST00000551275.1:c.363A>G | ENSP00000448041.1:p.Gln121= | |
| ENST00000552629.5:n.566A>G | ||
| NM_000424.3:c.468A>G | NP_000415.2:p.Gln156= | |
| NM_000424.4:c.468A>G MANE Select | NP_000415.2:p.Gln156= |