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