Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32634115T>G , CM000671.2:g.32634115T>G | GRCh38 |
| NC_000009.11:g.32634113T>G , CM000671.1:g.32634113T>G | GRCh37 |
| NC_000009.10:g.32624113T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153809.2:c.1465A>C MANE Select | NP_722516.1:p.Ile489Leu |
| ENST00000242310.4:c.1465A>C MANE Select | ENSP00000418379.1:p.Ile489Leu |