Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46384943C= , CM000673.2:g.46384943C= | GRCh38 |
| NC_000011.9:g.46406493C= , CM000673.1:g.46406493C= | GRCh37 |
| NC_000011.8:g.46363069C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000741.5:c.*175G= MANE Select | NP_000732.2:n.*175G= |
| ENST00000682254.1:c.*175G= MANE Select | ENSP00000507561.1:n.*175G= |
| NM_000741.3:c.*175G= | NP_000732.2:n.*175G= |
| NM_000741.4:c.*175G= | NP_000732.2:n.*175G= |
| NM_001366692.1:c.*175G= | NP_001353621.1:n.*175G= |
| NM_001366692.2:c.*175G= | NP_001353621.1:n.*175G= |