Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129806381C>G , CM000685.2:g.129806381C>G | GRCh38 |
| NC_000023.10:g.128940357C>G , CM000685.1:g.128940357C>G | GRCh37 |
| NC_000023.9:g.128768038C>G | NCBI36 |
| NG_021387.1:g.42554G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016032.4:c.1084G>C MANE Select | NP_057116.2:p.Ala362Pro |
| ENST00000357166.11:c.1084G>C MANE Select | ENSP00000349689.6:p.Ala362Pro |
| NM_001008222.2:c.1084G>C | NP_001008223.1:p.Ala362Pro |
| NM_001008222.3:c.1084G>C | NP_001008223.1:p.Ala362Pro |
| NM_016032.3:c.1084G>C | NP_057116.2:p.Ala362Pro |
| ENST00000357166.10:c.1084G>C | ENSP00000349689.6:p.Ala362Pro |
| ENST00000371064.7:c.1084G>C | ENSP00000360103.3:p.Ala362Pro |
| XR_001755694.2:n.1588G>C |