Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41354391A>C , CM000681.2:g.41354391A>C | GRCh38 |
| NC_000019.9:g.41860296A>C , CM000681.1:g.41860296A>C | GRCh37 |
| NC_000019.8:g.46552136A>C | NCBI36 |
| NG_013091.1:g.14783T>G | |
| NG_013364.1:g.4536T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000539627.5:c.-30+3189A>C | ENSP00000441900.1:n.-30+3189A>C |
| ENST00000604123.5:c.142+76A>C | ENSP00000474871.1:n.142+76A>C |
| ENST00000604424.1:n.350+3189A>C |