Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478608A>T , CM000670.2:g.81478608A>T | GRCh38 |
| NC_000008.10:g.82390843A>T , CM000670.1:g.82390843A>T | GRCh37 |
| NC_000008.9:g.82553398A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*257T>A MANE Select | ENSP00000256104.4:n.*257T>A | |
| ENST00000256104.4:c.*257T>A | ENSP00000256104.4:n.*257T>A | |
| NM_001442.2:c.*257T>A | NP_001433.1:n.*257T>A | |
| XR_001745980.1:n.514+16634A>T | ||
| NM_001442.3:c.*257T>A MANE Select | NP_001433.1:n.*257T>A |