Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.103101373T>A , CM000674.2:g.103101373T>A | GRCh38 |
| NC_000012.11:g.103495151T>A , CM000674.1:g.103495151T>A | GRCh37 |
| NC_000012.10:g.102019281T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386867.1:c.*22-19836A>T | NP_001373796.1:n.*22-19836A>T |
| NR_170336.1:n.1120-19836A>T | |
| XM_011538310.1:c.*22-19836A>T | XP_011536612.1:n.*22-19836A>T |
| XR_001748690.1:n.665-53047A>T |