Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21880921G>A , CM000685.2:g.21880921G>A | GRCh38 |
| NC_000023.10:g.21899039G>A , CM000685.1:g.21899039G>A | GRCh37 |
| NC_000023.9:g.21808960G>A | NCBI36 |
| NG_012797.1:g.46384G>A | |
| NG_012797.2:g.46384G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015884.4:c.1286G>A MANE Select | NP_056968.1:p.Arg429His |
| ENST00000379484.10:c.1286G>A MANE Select | ENSP00000368798.5:p.Arg429His |
| NM_015884.3:c.1286G>A | NP_056968.1:p.Arg429His |
| ENST00000379484.9:c.1286G>A | ENSP00000368798.5:p.Arg429His |