Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52251970T>A , CM000674.2:g.52251970T>A | GRCh38 |
| NC_000012.11:g.52645754T>A , CM000674.1:g.52645754T>A | GRCh37 |
| NC_000012.10:g.50932021T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_146088.1:n.1243+57A>T (KRT87P) | |
| ENST00000529785.1:n.1602+57A>T (KRT87P) | |
| ENST00000534226.5:n.1288+57A>T (KRT87P) | |
| ENST00000548657.5:n.423T>A (KRT7) | |
| ENST00000553310.6:c.-5+2542T>A (KRT86) | ENSP00000452237.3:n.-5+2542T>A |
| XM_011538325.1:c.*61T>A (KRT7) | XP_011536627.1:n.*61T>A |
| XM_011538325.2:c.*61T>A (KRT7) | XP_011536627.1:n.*61T>A |
| XR_001748700.2:n.1693T>A (KRT7) |