Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20639952C>T , CM000663.2:g.20639952C>T | GRCh38 |
| NC_000001.10:g.20966445C>T , CM000663.1:g.20966445C>T | GRCh37 |
| NC_000001.9:g.20839032C>T | NCBI36 |
| NG_008164.1:g.11498C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032409.3:c.736C>T MANE Select | NP_115785.1:p.Arg246Ter |
| ENST00000321556.5:c.736C>T MANE Select | ENSP00000364204.3:p.Arg246Ter |
| NM_032409.2:c.736C>T | NP_115785.1:p.Arg246Ter |
| ENST00000321556.4:c.736C>T | ENSP00000364204.3:p.Arg246Ter |
| ENST00000492302.1:n.1824C>T |