Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200252G>C , CM000668.2:g.31200252G>C | GRCh38 |
| NC_000006.11:g.31168029G>C , CM000668.1:g.31168029G>C | GRCh37 |
| NC_000006.10:g.31276008G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_026791.1:n.124-2120G>C | |
| ENST00000383331.4:c.124-2120G>C | |
| ENST00000414008.2:n.359G>C | |
| ENST00000424675.1:c.44+2071G>C |