Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44891079T>C , CM000681.2:g.44891079T>C | GRCh38 |
| NC_000019.9:g.45394336T>C , CM000681.1:g.45394336T>C | GRCh37 |
| NC_000019.8:g.50086176T>C | NCBI36 |
| NG_029149.1:g.49944T>C | |
| NG_042854.1:g.4860T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000589253.1:c.-9-328T>C | ENSP00000465611.1:n.-9-328T>C |