Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137067781G>T , CM000667.2:g.137067781G>T | GRCh38 |
| NC_000005.9:g.136403470G>T , CM000667.1:g.136403470G>T | GRCh37 |
| NC_000005.8:g.136431369G>T | NCBI36 |
| NG_034127.1:g.436549C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004598.4:c.523C>A MANE Select | NP_004589.1:p.Leu175Ile |
| ENST00000394945.6:c.523C>A MANE Select | ENSP00000378401.1:p.Leu175Ile |
| NM_004598.3:c.523C>A | NP_004589.1:p.Leu175Ile |
| ENST00000282223.11:c.337C>A | ENSP00000282223.9:p.Leu113Ile |
| ENST00000394945.5:c.523C>A | ENSP00000378401.1:p.Leu175Ile |
| ENST00000510689.5:c.88C>A | ENSP00000421677.1:p.Leu30Ile |
| ENST00000635347.1:n.496C>A |