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