Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133658547C= , CM000671.2:g.133658547C= | GRCh38 |
| NC_000009.11:g.136523669C= , CM000671.1:g.136523669C= | GRCh37 |
| NC_000009.10:g.135513490C= | NCBI36 |
| NG_008645.1:g.27185C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.*100C= MANE Select | NP_000778.3:n.*100C= |
| ENST00000393056.8:c.*100C= MANE Select | ENSP00000376776.2:n.*100C= |
| NM_000787.3:c.*100C= | NP_000778.3:n.*100C= |
| ENST00000393056.6:c.*100C= | ENSP00000376776.2:n.*100C= |