Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478626T>C , CM000670.2:g.81478626T>C | GRCh38 |
| NC_000008.10:g.82390861T>C , CM000670.1:g.82390861T>C | GRCh37 |
| NC_000008.9:g.82553416T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*239A>G MANE Select | ENSP00000256104.4:n.*239A>G | |
| ENST00000256104.4:c.*239A>G | ENSP00000256104.4:n.*239A>G | |
| NM_001442.2:c.*239A>G | NP_001433.1:n.*239A>G | |
| XR_001745980.1:n.514+16652T>C | ||
| NM_001442.3:c.*239A>G MANE Select | NP_001433.1:n.*239A>G |