Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147795936G>C , CM000668.2:g.147795936G>C | GRCh38 |
| NC_000006.11:g.148117072G>C , CM000668.1:g.148117072G>C | GRCh37 |
| NC_000006.10:g.148158765G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017010850.1:c.460-151536G>C | XP_016866339.1:n.460-151536G>C |