Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668055G= , CM000670.2:g.86668055G= | GRCh38 |
| NC_000008.10:g.87680283G= , CM000670.1:g.87680283G= | GRCh37 |
| NC_000008.9:g.87749399G= | NCBI36 |
| NG_016980.1:g.80621C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.607C= MANE Select | NP_061971.3:p.Arg203= |
| ENST00000320005.6:c.607C= MANE Select | ENSP00000316605.5:p.Arg203= |
| NM_019098.4:c.607C= | NP_061971.3:p.Arg203= |
| ENST00000320005.5:c.607C= | ENSP00000316605.5:p.Arg203= |
| ENST00000681746.1:c.607C= | ENSP00000505959.1:p.Arg203= |
| XM_011517138.1:c.193C= | XP_011515440.1:p.Arg65= |
| XM_011517138.2:c.193C= | XP_011515440.1:p.Arg65= |