Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99144358T>G , CM000666.2:g.99144358T>G | GRCh38 |
| NC_000004.11:g.100065509T>G , CM000666.1:g.100065509T>G | GRCh37 |
| NC_000004.10:g.100284532T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037884.1:n.680-10187T>G | |
| ENST00000504581.1:n.170-1578A>C |