Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924449G>A , CM000675.2:g.27924449G>A | GRCh38 |
| NC_000013.10:g.28498586G>A , CM000675.1:g.28498586G>A | GRCh37 |
| NC_000013.9:g.27396586G>A | NCBI36 |
| NG_008183.1:g.9419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.600G>A MANE Select | ENSP00000370421.4:p.Lys200= | |
| ENST00000381033.4:c.600G>A | ENSP00000370421.4:p.Lys200= | |
| NM_000209.3:c.600G>A | NP_000200.1:p.Lys200= | |
| NM_000209.4:c.600G>A MANE Select | NP_000200.1:p.Lys200= |