Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41354331C= , CM000681.2:g.41354331C= | GRCh38 |
| NC_000019.9:g.41860236C= , CM000681.1:g.41860236C= | GRCh37 |
| NC_000019.8:g.46552076C= | NCBI36 |
| NG_013091.1:g.14843G= | |
| NG_013364.1:g.4596G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000539627.5:c.-30+3129C= | ENSP00000441900.1:n.-30+3129C= |
| ENST00000604123.5:c.142+16C= | ENSP00000474871.1:n.142+16C= |
| ENST00000604424.1:n.350+3129C= |