Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641886C>T , CM000682.2:g.10641886C>T | GRCh38 |
| NC_000020.10:g.10622534C>T , CM000682.1:g.10622534C>T | GRCh37 |
| NC_000020.9:g.10570534C>T | NCBI36 |
| NG_007496.1:g.37161G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2579G>A MANE Select | NP_000205.1:p.Gly860Glu |
| ENST00000254958.10:c.2579G>A MANE Select | ENSP00000254958.4:p.Gly860Glu |
| NM_000214.2:c.2579G>A | NP_000205.1:p.Gly860Glu |
| ENST00000254958.9:c.2579G>A | ENSP00000254958.4:p.Gly860Glu |
| ENST00000423891.6:n.2445G>A | |
| ENST00000617965.2:n.3168G>A |