Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40197276A>C , CM000674.2:g.40197276A>C | GRCh38 |
| NC_000012.11:g.40591078A>C , CM000674.1:g.40591078A>C | GRCh37 |
| NC_000012.10:g.38877345A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416796.5:c.-63+503A>C | ENSP00000398726.1:n.-63+503A>C |