Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697499G>C , CM000684.2:g.50697499G>C | GRCh38 |
| NC_000022.10:g.51135927G>C , CM000684.1:g.51135927G>C | GRCh37 |
| NC_000022.9:g.49482793G>C | NCBI36 |
| NG_008607.2:g.27858G>C | |
| NG_070230.1:g.33077G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-65G>C | ENSP00000489147.2:n.948-65G>C | |
| ENST00000414786.7:n.1532-65G>C | ||
| ENST00000673971.2:c.1305-65G>C | ENSP00000501192.1:n.1305-65G>C | |
| ENST00000262795.6:c.948-65G>C | ENSP00000489147.2:n.948-65G>C | |
| ENST00000673971.1:c.1305-65G>C | ENSP00000501192.1:n.1305-65G>C | |
| ENST00000262795.5:c.1345-66G>C | ENSP00000489147.1:n.1345-66G>C | |
| ENST00000414786.6:n.1532-65G>C | ||
| ENST00000445220.5:c.1326-65G>C | ENSP00000489407.1:n.1326-65G>C |