Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130385141C>A , CM000669.2:g.130385141C>A | GRCh38 |
| NC_000007.13:g.130024982C>A , CM000669.1:g.130024982C>A | GRCh37 |
| NC_000007.12:g.129812218C>A | NCBI36 |
| NG_042276.1:g.9771C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.788-5C>A MANE Select | NP_001859.1:n.788-5C>A |
| ENST00000011292.8:c.788-5C>A MANE Select | ENSP00000011292.3:n.788-5C>A |
| NM_001868.3:c.788-5C>A | NP_001859.1:n.788-5C>A |
| ENST00000011292.7:c.788-5C>A | ENSP00000011292.3:n.788-5C>A |
| ENST00000476062.5:c.524-5C>A | ENSP00000419408.1:n.524-5C>A |
| ENST00000478096.1:n.507C>A | |
| ENST00000479106.1:n.1358C>A | |
| ENST00000484324.1:c.524-5C>A | ENSP00000419497.1:n.524-5C>A |
| ENST00000604896.5:c.344-5C>A | ENSP00000475021.1:n.344-5C>A |