Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61278838C= , CM000682.2:g.61278838C= | GRCh38 |
| NC_000020.10:g.59853894C= , CM000682.1:g.59853894C= | GRCh37 |
| NC_000020.9:g.59287289C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.169+23901C= MANE Select | ENSP00000484928.1:n.169+23901C= | |
| ENST00000614565.4:c.169+23901C= | ENSP00000484928.1:n.169+23901C= | |
| NM_001794.4:c.169+23901C= | NP_001785.2:n.169+23901C= | |
| NM_001794.5:c.169+23901C= MANE Select | NP_001785.2:n.169+23901C= |