Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52518140C>G , CM000674.2:g.52518140C>G | GRCh38 |
| NC_000012.11:g.52911924C>G , CM000674.1:g.52911924C>G | GRCh37 |
| NC_000012.10:g.51198191C>G | NCBI36 |
| NG_008297.1:g.7320G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.794G>C MANE Select | NP_000415.2:p.Arg265Pro |
| ENST00000252242.9:c.794G>C MANE Select | ENSP00000252242.4:p.Arg265Pro |
| NM_000424.3:c.794G>C | NP_000415.2:p.Arg265Pro |
| ENST00000252242.8:c.794G>C | ENSP00000252242.4:p.Arg265Pro |
| ENST00000549420.1:c.464G>C | ENSP00000447209.1:p.Arg155Pro |
| ENST00000551013.1:n.322G>C | |
| ENST00000551188.5:c.237G>C | |
| ENST00000552629.5:n.892G>C |