Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156971703G= , CM000666.2:g.156971703G= | GRCh38 |
| NC_000004.11:g.157892855G= , CM000666.1:g.157892855G= | GRCh37 |
| NC_000004.10:g.158112305G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.-800C= MANE Select | ENSP00000422464.1:n.-800C= | |
| NM_016205.3:c.-800C= MANE Select | NP_057289.1:n.-800C= | |
| NR_036641.2:n.97C= |