Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105347437A>G , CM000666.2:g.105347437A>G | GRCh38 |
| NC_000004.11:g.106268594A>G , CM000666.1:g.106268594A>G | GRCh37 |
| NC_000004.10:g.106488043A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_126420.1:n.202+5243T>C |