Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478643G>A , CM000670.2:g.81478643G>A | GRCh38 |
| NC_000008.10:g.82390878G>A , CM000670.1:g.82390878G>A | GRCh37 |
| NC_000008.9:g.82553433G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*222C>T MANE Select | ENSP00000256104.4:n.*222C>T | |
| ENST00000256104.4:c.*222C>T | ENSP00000256104.4:n.*222C>T | |
| NM_001442.2:c.*222C>T | NP_001433.1:n.*222C>T | |
| XR_001745980.1:n.514+16669G>A | ||
| NM_001442.3:c.*222C>T MANE Select | NP_001433.1:n.*222C>T |