Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20656138G>T , CM000663.2:g.20656138G>T | GRCh38 |
| NC_000001.10:g.20982631G>T , CM000663.1:g.20982631G>T | GRCh37 |
| NC_000001.9:g.20855218G>T | NCBI36 |
| NG_032064.1:g.10407C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602624.7:c.315C>A MANE Select | ENSP00000473655.2:p.Gly105= | |
| ENST00000375048.7:c.366C>A | ENSP00000364188.3:p.Gly122= | |
| ENST00000415136.6:c.366C>A | ENSP00000399457.3:p.Gly122= | |
| ENST00000464364.1:c.266-359C>A | ENSP00000475634.1:n.266-359C>A | |
| ENST00000602624.6:c.315C>A | ENSP00000473655.1:p.Gly105= | |
| NM_005216.4:c.366C>A | NP_005207.2:p.Gly122= | |
| NM_005216.5:c.315C>A MANE Select | NP_005207.3:p.Gly105= |