Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68688888G>T , CM000673.2:g.68688888G>T | GRCh38 |
| NC_000011.9:g.68456356G>T , CM000673.1:g.68456356G>T | GRCh37 |
| NC_000011.8:g.68212932G>T | NCBI36 |
| NG_052785.1:g.9414G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.263G>T MANE Select | NP_057057.2:p.Arg88Leu |
| ENST00000265643.4:c.263G>T MANE Select | ENSP00000265643.3:p.Arg88Leu |
| NM_015973.3:c.263G>T | NP_057057.2:p.Arg88Leu |
| NM_015973.4:c.263G>T | NP_057057.2:p.Arg88Leu |
| ENST00000265643.3:c.263G>T | ENSP00000265643.3:p.Arg88Leu |