Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433858C>G , CM000674.2:g.52433858C>G | GRCh38 |
| NC_000012.11:g.52827642C>G , CM000674.1:g.52827642C>G | GRCh37 |
| NC_000012.10:g.51113909C>G | NCBI36 |
| NG_008403.1:g.5469G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.447G>C MANE Select | ENSP00000252245.5:p.Glu149Asp | |
| ENST00000252245.5:c.447G>C | ENSP00000252245.5:p.Glu149Asp | |
| NM_004693.2:c.447G>C | NP_004684.2:p.Glu149Asp | |
| NM_004693.3:c.447G>C MANE Select | NP_004684.2:p.Glu149Asp |