Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38754065G>C , CM000664.2:g.38754065G>C | GRCh38 |
| NC_000002.11:g.38981207G>C , CM000664.1:g.38981207G>C | GRCh37 |
| NC_000002.10:g.38834711G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000409011.5:c.-281+2247G>C | ENSP00000387191.1:n.-281+2247G>C |