Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797541A>C , CM000668.2:g.35797541A>C | GRCh38 |
| NC_000006.11:g.35765318A>C , CM000668.1:g.35765318A>C | GRCh37 |
| NC_000006.10:g.35873296A>C | NCBI36 |
| NG_012184.3:g.5336A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+82A>C | ENSP00000498322.1:n.-255+82A>C | |
| XM_011514403.1:c.-135+82A>C | XP_011512705.1:n.-135+82A>C |