Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478578A>G , CM000670.2:g.81478578A>G | GRCh38 |
| NC_000008.10:g.82390813A>G , CM000670.1:g.82390813A>G | GRCh37 |
| NC_000008.9:g.82553368A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*287T>C MANE Select | ENSP00000256104.4:n.*287T>C | |
| ENST00000256104.4:c.*287T>C | ENSP00000256104.4:n.*287T>C | |
| NM_001442.2:c.*287T>C | NP_001433.1:n.*287T>C | |
| XR_001745980.1:n.514+16604A>G | ||
| NM_001442.3:c.*287T>C MANE Select | NP_001433.1:n.*287T>C |