Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116821170C>T , CM000673.2:g.116821170C>T | GRCh38 |
| NC_000011.9:g.116691886C>T , CM000673.1:g.116691886C>T | GRCh37 |
| NC_000011.8:g.116197096C>T | NCBI36 |
| NG_012044.1:g.7126G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000482.4:c.888G>A MANE Select | NP_000473.2:p.Leu296= |
| ENST00000357780.5:c.888G>A MANE Select | ENSP00000350425.3:p.Leu296= |
| NM_000482.3:c.888G>A | NP_000473.2:p.Leu296= |
| ENST00000357780.4:c.888G>A | ENSP00000350425.3:p.Leu296= |