Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119335354G>C , CM000673.2:g.119335354G>C | GRCh38 |
| NC_000011.9:g.119206064G>C , CM000673.1:g.119206064G>C | GRCh37 |
| NC_000011.8:g.118711274G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311413.5:c.232G>C MANE Select | ENSP00000312439.4:p.Gly78Arg | |
| ENST00000311413.4:c.232G>C | ENSP00000312439.4:p.Gly78Arg | |
| NM_032015.4:c.232G>C | NP_114404.1:p.Gly78Arg | |
| NM_032015.5:c.232G>C MANE Select | NP_114404.1:p.Gly78Arg |