Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924533C>G , CM000675.2:g.27924533C>G | GRCh38 |
| NC_000013.10:g.28498670C>G , CM000675.1:g.28498670C>G | GRCh37 |
| NC_000013.9:g.27396670C>G | NCBI36 |
| NG_008183.1:g.9503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.684C>G MANE Select | ENSP00000370421.4:p.Ala228= | |
| ENST00000381033.4:c.684C>G | ENSP00000370421.4:p.Ala228= | |
| NM_000209.3:c.684C>G | NP_000200.1:p.Ala228= | |
| NM_000209.4:c.684C>G MANE Select | NP_000200.1:p.Ala228= |