Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10285007A= , CM000681.2:g.10285007A= | GRCh38 |
| NC_000019.9:g.10395683A= , CM000681.1:g.10395683A= | GRCh37 |
| NC_000019.8:g.10256683A= | NCBI36 |
| NG_007728.1:g.3034A= | |
| NG_012083.1:g.19167A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000201.3:c.1405A= MANE Select | NP_000192.2:p.Lys469= |
| ENST00000264832.8:c.1405A= MANE Select | ENSP00000264832.2:p.Lys469= |
| NM_000201.2:c.1405A= | NP_000192.2:p.Lys469= |
| ENST00000264832.7:c.1405A= | ENSP00000264832.2:p.Lys469= |
| ENST00000423829.2:c.739A= | ENSP00000413124.2:p.Lys247= |