Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110591117C>A , CM000672.2:g.110591117C>A | GRCh38 |
| NC_000010.10:g.112350875C>A , CM000672.1:g.112350875C>A | GRCh37 |
| NC_000010.9:g.112340865C>A | NCBI36 |
| NG_012217.1:g.28427C>A , LRG_774:g.28427C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.1797C>A MANE Select | NP_005436.1:p.Ala599= |
| ENST00000361804.5:c.1797C>A MANE Select | ENSP00000354720.5:p.Ala599= |
| NM_005445.3:c.1797C>A , LRG_774t1:c.1797C>A | NP_005436.1:p.Ala599= |
| ENST00000361804.4:c.1797C>A | ENSP00000354720.4:p.Ala599= |
| ENST00000684797.1:n.1697C>A | |
| ENST00000684988.1:n.2442C>A | |
| ENST00000687823.1:n.1711C>A | |
| ENST00000691297.1:n.1930C>A | |
| ENST00000692792.1:n.1916C>A |