Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153729227C>A , CM000685.2:g.153729227C>A | GRCh38 |
| NC_000023.10:g.152994682C>A , CM000685.1:g.152994682C>A | GRCh37 |
| NC_000023.9:g.152647876C>A | NCBI36 |
| NG_009022.2:g.9360C>A | |
| NG_023231.1:g.520G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.901-5C>A MANE Select | NP_000024.2:n.901-5C>A |
| ENST00000218104.6:c.901-5C>A MANE Select | ENSP00000218104.3:n.901-5C>A |
| NM_000033.3:c.901-5C>A | NP_000024.2:n.901-5C>A |
| ENST00000218104.5:c.901-5C>A | ENSP00000218104.3:n.901-5C>A |
| ENST00000370129.4:c.346-5C>A | ENSP00000359147.3:n.346-5C>A |
| XR_938507.1:n.1317-5C>A | |
| XR_938507.2:n.1317-5C>A |