Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133639848C= , CM000671.2:g.133639848C= | GRCh38 |
| NC_000009.11:g.136504970C= , CM000671.1:g.136504970C= | GRCh37 |
| NC_000009.10:g.135494791C= | NCBI36 |
| NG_008645.1:g.8486C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.342C= MANE Select | NP_000778.3:p.Asp114= |
| ENST00000393056.8:c.342C= MANE Select | ENSP00000376776.2:p.Asp114= |
| NM_000787.3:c.342C= | NP_000778.3:p.Asp114= |
| ENST00000263611.2:c.298-2359C= | ENSP00000263611.2:n.298-2359C= |
| ENST00000263611.3:c.334-2359C= | ENSP00000263611.3:n.334-2359C= |
| ENST00000393056.6:c.342C= | ENSP00000376776.2:p.Asp114= |