Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171776468C>T , CM000667.2:g.171776468C>T | GRCh38 |
| NC_000005.9:g.171203472C>T , CM000667.1:g.171203472C>T | GRCh37 |
| NC_000005.8:g.171136077C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011534623.1:c.3+2510C>T | XP_011532925.1:n.3+2510C>T | |
| XM_011534624.1:c.3+2510C>T | XP_011532926.1:n.3+2510C>T | |
| XM_011534623.2:c.3+2510C>T | XP_011532925.1:n.3+2510C>T | |
| XM_011534624.2:c.3+2510C>T | XP_011532926.1:n.3+2510C>T |