Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658637G= , CM000682.2:g.10658637G= | GRCh38 |
| NC_000020.10:g.10639285G= , CM000682.1:g.10639285G= | GRCh37 |
| NC_000020.9:g.10587285G= | NCBI36 |
| NG_007496.1:g.20410C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.525C= MANE Select | ENSP00000254958.4:p.Gly175= | |
| ENST00000254958.9:c.525C= | ENSP00000254958.4:p.Gly175= | |
| ENST00000423891.6:n.391C= | ||
| NM_000214.2:c.525C= | NP_000205.1:p.Gly175= | |
| NM_000214.3:c.525C= MANE Select | NP_000205.1:p.Gly175= |