Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516824C>G , CM000674.2:g.52516824C>G | GRCh38 |
| NC_000012.11:g.52910608C>G , CM000674.1:g.52910608C>G | GRCh37 |
| NC_000012.10:g.51196875C>G | NCBI36 |
| NG_008297.1:g.8636G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1252G>C MANE Select | NP_000415.2:p.Glu418Gln |
| ENST00000252242.9:c.1252G>C MANE Select | ENSP00000252242.4:p.Glu418Gln |
| NM_000424.3:c.1252G>C | NP_000415.2:p.Glu418Gln |
| ENST00000252242.8:c.1252G>C | ENSP00000252242.4:p.Glu418Gln |
| ENST00000547890.5:n.630G>C | |
| ENST00000548409.5:c.374G>C | |
| ENST00000549511.5:n.459G>C | |
| ENST00000552629.5:n.1350G>C |