Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147854836C>A , CM000667.2:g.147854836C>A | GRCh38 |
| NC_000005.9:g.147234399C>A , CM000667.1:g.147234399C>A | GRCh37 |
| NC_000005.8:g.147214592C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017009459.1:c.261-4294G>T | XP_016864948.1:n.261-4294G>T |