Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346566G>T , CM000673.2:g.66346566G>T | GRCh38 |
| NC_000011.9:g.66114037G>T , CM000673.1:g.66114037G>T | GRCh37 |
| NC_000011.8:g.65870613G>T | NCBI36 |
| NG_033202.1:g.6125C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.980C>A MANE Select | ENSP00000309096.4:p.Pro327Gln | |
| ENST00000311181.4:c.980C>A | ENSP00000309096.4:p.Pro327Gln | |
| NM_006876.2:c.980C>A | NP_006867.1:p.Pro327Gln | |
| NM_006876.3:c.980C>A MANE Select | NP_006867.1:p.Pro327Gln |