Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043443G>A , CM000663.2:g.94043443G>A | GRCh38 |
| NC_000001.10:g.94508999G>A , CM000663.1:g.94508999G>A | GRCh37 |
| NC_000001.9:g.94281587G>A | NCBI36 |
| NG_009073.1:g.82707C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.3083C>T MANE Select | NP_000341.2:p.Ala1028Val |
| ENST00000370225.4:c.3083C>T MANE Select | ENSP00000359245.3:p.Ala1028Val |
| NM_000350.2:c.3083C>T | NP_000341.2:p.Ala1028Val |
| ENST00000370225.3:c.3083C>T | ENSP00000359245.3:p.Ala1028Val |
| ENST00000536513.5:c.-64-3354C>T | ENSP00000439707.2:n.-64-3354C>T |