Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119140808G>C , CM000663.2:g.119140808G>C | GRCh38 |
| NC_000001.10:g.119683431G>C , CM000663.1:g.119683431G>C | GRCh37 |
| NC_000001.9:g.119484954G>C | NCBI36 |
| NG_050658.1:g.4981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125974.1:n.398+15G>C | ||
| NR_125975.1:n.398+15G>C | ||
| NR_125976.1:n.398+15G>C | ||
| NR_125977.1:n.398+15G>C |