Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478718A>G , CM000670.2:g.81478718A>G | GRCh38 |
| NC_000008.10:g.82390953A>G , CM000670.1:g.82390953A>G | GRCh37 |
| NC_000008.9:g.82553508A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*147T>C MANE Select | ENSP00000256104.4:n.*147T>C | |
| ENST00000256104.4:c.*147T>C | ENSP00000256104.4:n.*147T>C | |
| ENST00000518669.5:n.481T>C | ||
| ENST00000521734.1:n.755T>C | ||
| ENST00000522659.1:c.*422T>C | ENSP00000428385.1:n.*422T>C | |
| NM_001442.2:c.*147T>C | NP_001433.1:n.*147T>C | |
| XR_001745980.1:n.514+16744A>G | ||
| NM_001442.3:c.*147T>C MANE Select | NP_001433.1:n.*147T>C |