Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86667131G>T , CM000670.2:g.86667131G>T | GRCh38 |
| NC_000008.10:g.87679359G>T , CM000670.1:g.87679359G>T | GRCh37 |
| NC_000008.9:g.87748475G>T | NCBI36 |
| NG_016980.1:g.81545C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.646C>A MANE Select | NP_061971.3:p.Arg216= |
| ENST00000320005.6:c.646C>A MANE Select | ENSP00000316605.5:p.Arg216= |
| NM_019098.4:c.646C>A | NP_061971.3:p.Arg216= |
| ENST00000320005.5:c.646C>A | ENSP00000316605.5:p.Arg216= |
| ENST00000681746.1:c.646C>A | ENSP00000505959.1:p.Arg216= |
| XM_011517138.1:c.232C>A | XP_011515440.1:p.Arg78= |
| XM_011517138.2:c.232C>A | XP_011515440.1:p.Arg78= |