Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148825403T>G , CM000667.2:g.148825403T>G | GRCh38 |
| NC_000005.9:g.148204966T>G , CM000667.1:g.148204966T>G | GRCh37 |
| NC_000005.8:g.148185159T>G | NCBI36 |
| NG_016421.1:g.3811T>G | |
| NG_016421.2:g.3811T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000305988.5:c.-1429T>G | ENSP00000305372.4:n.-1429T>G |