Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55608496A>C , CM000668.2:g.55608496A>C | GRCh38 |
| NC_000006.11:g.55473294A>C , CM000668.1:g.55473294A>C | GRCh37 |
| NC_000006.10:g.55581253A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011514701.1:c.-279-66356T>G | XP_011513003.1:n.-279-66356T>G |