Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.148226666G= , CM000668.2:g.148226666G= | GRCh38 |
| NC_000006.11:g.148547802G= , CM000668.1:g.148547802G= | GRCh37 |
| NC_000006.10:g.148589495G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_006715406.2:c.12+14393G= | XP_006715469.1:n.12+14393G= |
| XM_011535637.1:c.45+33041G= | XP_011533939.1:n.45+33041G= |
| XM_011535639.1:c.45+33041G= | XP_011533941.1:n.45+33041G= |
| XM_017010599.1:c.45+33041G= | XP_016866088.1:n.45+33041G= |
| XM_024446384.1:c.45+33041G= | XP_024302152.1:n.45+33041G= |