Linked Data
MyVariant Identifiers:
chr12:g.52912812G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519028G>A , CM000674.2:g.52519028G>A | GRCh38 |
| NC_000012.11:g.52912812G>A , CM000674.1:g.52912812G>A | GRCh37 |
| NC_000012.10:g.51199079G>A | NCBI36 |
| NG_008297.1:g.6432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.688C>T MANE Select | ENSP00000252242.4:p.Leu230= | |
| ENST00000252242.8:c.688C>T | ENSP00000252242.4:p.Leu230= | |
| ENST00000549420.1:c.358C>T | ENSP00000447209.1:p.Leu120= | |
| ENST00000551013.1:n.216C>T | ||
| ENST00000551188.5:c.90C>T | ||
| ENST00000552629.5:n.786C>T | ||
| NM_000424.3:c.688C>T | NP_000415.2:p.Leu230= | |
| NM_000424.4:c.688C>T MANE Select | NP_000415.2:p.Leu230= |