Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697503C>A , CM000684.2:g.50697503C>A | GRCh38 |
| NC_000022.10:g.51135931C>A , CM000684.1:g.51135931C>A | GRCh37 |
| NC_000022.9:g.49482797C>A | NCBI36 |
| NG_008607.2:g.27862C>A | |
| NG_070230.1:g.33081C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-61C>A | ENSP00000489147.2:n.948-61C>A | |
| ENST00000414786.7:n.1532-61C>A | ||
| ENST00000673971.2:c.1305-61C>A | ENSP00000501192.1:n.1305-61C>A | |
| ENST00000262795.6:c.948-61C>A | ENSP00000489147.2:n.948-61C>A | |
| ENST00000673971.1:c.1305-61C>A | ENSP00000501192.1:n.1305-61C>A | |
| ENST00000262795.5:c.1345-62C>A | ENSP00000489147.1:n.1345-62C>A | |
| ENST00000414786.6:n.1532-61C>A | ||
| ENST00000445220.5:c.1326-61C>A | ENSP00000489407.1:n.1326-61C>A |