Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924574C>A , CM000675.2:g.27924574C>A | GRCh38 |
| NC_000013.10:g.28498711C>A , CM000675.1:g.28498711C>A | GRCh37 |
| NC_000013.9:g.27396711C>A | NCBI36 |
| NG_008183.1:g.9544C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000209.4:c.725C>A MANE Select | NP_000200.1:p.Pro242Gln |
| ENST00000381033.5:c.725C>A MANE Select | ENSP00000370421.4:p.Pro242Gln |
| NM_000209.3:c.725C>A | NP_000200.1:p.Pro242Gln |
| ENST00000381033.4:c.725C>A | ENSP00000370421.4:p.Pro242Gln |