Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961006T= , CM000670.2:g.19961006T= | GRCh38 |
| NC_000008.10:g.19818517T= , CM000670.1:g.19818517T= | GRCh37 |
| NC_000008.9:g.19862797T= | NCBI36 |
| NG_008855.1:g.26936T= | |
| NG_008855.2:g.64290T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1245T= MANE Select | ENSP00000497642.1:p.Phe415= | |
| ENST00000650478.1:c.185T= | ENSP00000497560.1:n.185T= | |
| ENST00000311322.8:c.1245T= | ENSP00000309757.6:p.Phe415= | |
| NM_000237.2:c.1245T= | NP_000228.1:p.Phe415= | |
| NM_000237.3:c.1245T= MANE Select | NP_000228.1:p.Phe415= |