Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444773C>A , CM000673.2:g.2444773C>A | GRCh38 |
| NC_000011.9:g.2466003C>A , CM000673.1:g.2466003C>A | GRCh37 |
| NC_000011.8:g.2422579C>A | NCBI36 |
| NG_008935.1:g.4783C>A , LRG_287:g.4783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+65C>A | ENSP00000434560.2:n.23+65C>A | |
| ENST00000496887.6:c.23+65C>A | ENSP00000434560.1:n.23+65C>A |