Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560619T>C , CM000667.2:g.53560619T>C | GRCh38 |
| NC_000005.9:g.52856449T>C , CM000667.1:g.52856449T>C | GRCh37 |
| NC_000005.8:g.52892206T>C | NCBI36 |
| NG_008200.1:g.4985T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017009491.1:c.-44T>C | XP_016864980.1:n.-44T>C |