Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32377506C= , CM000668.2:g.32377506C= | GRCh38 |
| NC_000006.11:g.32345283C= , CM000668.1:g.32345283C= | GRCh37 |
| NC_000006.10:g.32453261C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.481+11667C= | XP_011513341.1:n.481+11667C= | |
| XM_011515040.1:c.482-5462C= | XP_011513342.1:n.482-5462C= | |
| NR_136244.1:n.501-5458C= | ||
| NR_136245.1:n.302+11667C= |