Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55031184G>C , CM000685.2:g.55031184G>C | GRCh38 |
| NC_000023.10:g.55057617G>C , CM000685.1:g.55057617G>C | GRCh37 |
| NC_000023.9:g.55074342G>C | NCBI36 |
| NG_008983.1:g.4881C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011530785.1:c.61+1512G>C | XP_011529087.1:n.61+1512G>C |
| XM_011530785.2:c.61+1512G>C | XP_011529087.1:n.61+1512G>C |
| XM_011530786.1:c.7+209G>C | XP_011529088.1:n.7+209G>C |
| XM_011530786.3:c.7+209G>C | XP_011529088.1:n.7+209G>C |