Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147795642C>T , CM000668.2:g.147795642C>T | GRCh38 |
| NC_000006.11:g.148116778C>T , CM000668.1:g.148116778C>T | GRCh37 |
| NC_000006.10:g.148158471C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017010850.1:c.460-151830C>T | XP_016866339.1:n.460-151830C>T |