Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135812521T>C , CM000668.2:g.135812521T>C | GRCh38 |
| NC_000006.11:g.136133659T>C , CM000668.1:g.136133659T>C | GRCh37 |
| NC_000006.10:g.136175352T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011535755.1:c.138+2545T>C | XP_011534057.1:n.138+2545T>C |