Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658561G= , CM000682.2:g.10658561G= | GRCh38 |
| NC_000020.10:g.10639209G= , CM000682.1:g.10639209G= | GRCh37 |
| NC_000020.9:g.10587209G= | NCBI36 |
| NG_007496.1:g.20486C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.601C= MANE Select | ENSP00000254958.4:p.Arg201= | |
| ENST00000254958.9:c.601C= | ENSP00000254958.4:p.Arg201= | |
| ENST00000423891.6:n.467C= | ||
| NM_000214.2:c.601C= | NP_000205.1:p.Arg201= | |
| NM_000214.3:c.601C= MANE Select | NP_000205.1:p.Arg201= |