Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763865C>A , CM000673.2:g.763865C>A | GRCh38 |
| NC_000011.9:g.763865C>A , CM000673.1:g.763865C>A | GRCh37 |
| NC_000011.8:g.753865C>A | NCBI36 |
| NG_008160.1:g.21434C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.756C>A MANE Select | ENSP00000321259.3:p.Phe252Leu | |
| ENST00000319006.7:c.756C>A | ENSP00000321259.3:p.Phe252Leu | |
| ENST00000528097.5:c.756C>A | ENSP00000437098.1:p.Phe252Leu | |
| NM_006755.1:c.756C>A | NP_006746.1:p.Phe252Leu | |
| NM_006755.2:c.756C>A MANE Select | NP_006746.1:p.Phe252Leu |