Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576076G= , CM000670.2:g.86576076G= | GRCh38 |
| NC_000008.10:g.87588304G= , CM000670.1:g.87588304G= | GRCh37 |
| NC_000008.9:g.87657420G= | NCBI36 |
| NG_016980.1:g.172600C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2158C= MANE Select | ENSP00000316605.5:p.Gln720= | |
| ENST00000681546.1:n.1978C= | ||
| ENST00000681746.1:c.*569C= | ENSP00000505959.1:n.*569C= | |
| ENST00000320005.5:c.2158C= | ENSP00000316605.5:p.Gln720= | |
| ENST00000517327.5:c.276+2613C= | ENSP00000428329.1:n.276+2613C= | |
| NM_019098.4:c.2158C= | NP_061971.3:p.Gln720= | |
| XM_011517138.1:c.1744C= | XP_011515440.1:p.Gln582= | |
| XM_011517138.2:c.1744C= | XP_011515440.1:p.Gln582= | |
| NM_019098.5:c.2158C= MANE Select | NP_061971.3:p.Gln720= |