Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3993759T>C , CM000665.2:g.3993759T>C | GRCh38 |
| NC_000003.11:g.4035443T>C , CM000665.1:g.4035443T>C | GRCh37 |
| NC_000003.10:g.4010443T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000448413.5:c.1191+74810A>G | ENSP00000404384.1:n.1191+74810A>G |