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