Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81479499T>G , CM000670.2:g.81479499T>G | GRCh38 |
| NC_000008.10:g.82391734T>G , CM000670.1:g.82391734T>G | GRCh37 |
| NC_000008.9:g.82554289T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.263A>C MANE Select | ENSP00000256104.4:p.Asp88Ala | |
| ENST00000256104.4:c.263A>C | ENSP00000256104.4:p.Asp88Ala | |
| ENST00000518669.5:n.198A>C | ||
| ENST00000521734.1:n.472A>C | ||
| ENST00000522659.1:c.*139A>C | ENSP00000428385.1:n.*139A>C | |
| NM_001442.2:c.263A>C | NP_001433.1:p.Asp88Ala | |
| XR_001745980.1:n.514+17525T>G | ||
| NM_001442.3:c.263A>C MANE Select | NP_001433.1:p.Asp88Ala |