Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64754024G= , CM000673.2:g.64754024G= | GRCh38 |
| NC_000011.9:g.64521496G= , CM000673.1:g.64521496G= | GRCh37 |
| NC_000011.8:g.64278072G= | NCBI36 |
| NG_013018.1:g.11692C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1094C= MANE Select | NP_005600.1:p.Ala365= |
| ENST00000164139.4:c.1094C= MANE Select | ENSP00000164139.3:p.Ala365= |
| NM_001164716.1:c.830C= | NP_001158188.1:p.Ala277= |
| NM_005609.2:c.1094C= | NP_005600.1:p.Ala365= |
| NM_005609.3:c.1094C= | NP_005600.1:p.Ala365= |
| ENST00000164139.3:c.1094C= | ENSP00000164139.3:p.Ala365= |
| ENST00000377432.7:c.830C= | ENSP00000366650.3:p.Ala277= |
| ENST00000460413.1:n.171C= |