Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478665C>T , CM000670.2:g.81478665C>T | GRCh38 |
| NC_000008.10:g.82390900C>T , CM000670.1:g.82390900C>T | GRCh37 |
| NC_000008.9:g.82553455C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*200G>A MANE Select | ENSP00000256104.4:n.*200G>A | |
| ENST00000256104.4:c.*200G>A | ENSP00000256104.4:n.*200G>A | |
| NM_001442.2:c.*200G>A | NP_001433.1:n.*200G>A | |
| XR_001745980.1:n.514+16691C>T | ||
| NM_001442.3:c.*200G>A MANE Select | NP_001433.1:n.*200G>A |