Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11690063C>T , CM000680.2:g.11690063C>T | GRCh38 |
| NC_000018.9:g.11690062C>T , CM000680.1:g.11690062C>T | GRCh37 |
| NC_000018.8:g.11680062C>T | NCBI36 |
| NG_033866.1:g.6049C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182978.4:c.376+124C>T MANE Select | NP_892023.1:n.376+124C>T |
| ENST00000334049.11:c.376+124C>T MANE Select | ENSP00000334051.5:n.376+124C>T |
| NM_182978.3:c.376+124C>T | NP_892023.1:n.376+124C>T |
| ENST00000334049.10:c.376+124C>T | ENSP00000334051.5:n.376+124C>T |
| ENST00000585590.1:n.250+124C>T | |
| XM_006722324.1:c.376+124C>T | XP_006722387.1:n.376+124C>T |
| XM_006722324.3:c.376+124C>T | XP_006722387.1:n.376+124C>T |