Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20639952C= , CM000663.2:g.20639952C= | GRCh38 |
| NC_000001.10:g.20966445C= , CM000663.1:g.20966445C= | GRCh37 |
| NC_000001.9:g.20839032C= | NCBI36 |
| NG_008164.1:g.11498C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.736C= MANE Select | ENSP00000364204.3:p.Arg246= | |
| ENST00000321556.4:c.736C= | ENSP00000364204.3:p.Arg246= | |
| ENST00000492302.1:n.1824C= | ||
| NM_032409.2:c.736C= | NP_115785.1:p.Arg246= | |
| NM_032409.3:c.736C= MANE Select | NP_115785.1:p.Arg246= |