Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641825A= , CM000682.2:g.10641825A= | GRCh38 |
| NC_000020.10:g.10622473A= , CM000682.1:g.10622473A= | GRCh37 |
| NC_000020.9:g.10570473A= | NCBI36 |
| NG_007496.1:g.37222T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2640T= MANE Select | NP_000205.1:p.Cys880= |
| ENST00000254958.10:c.2640T= MANE Select | ENSP00000254958.4:p.Cys880= |
| NM_000214.2:c.2640T= | NP_000205.1:p.Cys880= |
| ENST00000254958.9:c.2640T= | ENSP00000254958.4:p.Cys880= |
| ENST00000423891.6:n.2506T= | |
| ENST00000617965.2:n.3229T= |