Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3836964G>C , CM000668.2:g.3836964G>C | GRCh38 |
| NC_000006.11:g.3837198G>C , CM000668.1:g.3837198G>C | GRCh37 |
| NC_000006.10:g.3782197G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017010729.1:c.-24+4953G>C | XP_016866218.1:n.-24+4953G>C |