Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658481G= , CM000682.2:g.10658481G= | GRCh38 |
| NC_000020.10:g.10639129G= , CM000682.1:g.10639129G= | GRCh37 |
| NC_000020.9:g.10587129G= | NCBI36 |
| NG_007496.1:g.20566C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.681C= MANE Select | ENSP00000254958.4:p.Pro227= | |
| ENST00000254958.9:c.681C= | ENSP00000254958.4:p.Pro227= | |
| ENST00000423891.6:n.547C= | ||
| NM_000214.2:c.681C= | NP_000205.1:p.Pro227= | |
| NM_000214.3:c.681C= MANE Select | NP_000205.1:p.Pro227= |