Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5499041C>A , CM000672.2:g.5499041C>A | GRCh38 |
| NC_000010.10:g.5541004C>A , CM000672.1:g.5541004C>A | GRCh37 |
| NC_000010.9:g.5531004C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017422.5:c.398G>T MANE Select | NP_059118.2:p.Arg133Leu |
| ENST00000380332.5:c.398G>T MANE Select | ENSP00000369689.3:p.Arg133Leu |
| NM_017422.4:c.398G>T | NP_059118.2:p.Arg133Leu |
| ENST00000380332.4:c.398G>T | ENSP00000369689.3:p.Arg133Leu |