Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116197325A= , CM000670.2:g.116197325A= | GRCh38 |
| NC_000008.10:g.117209548A= , CM000670.1:g.117209548A= | GRCh37 |
| NC_000008.9:g.117278729A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046215.1:n.1333+62167T= |