Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12091839C>T , CM000672.2:g.12091839C>T | GRCh38 |
| NC_000010.10:g.12133838C>T , CM000672.1:g.12133838C>T | GRCh37 |
| NC_000010.9:g.12173844C>T | NCBI36 |
| NG_033248.1:g.27923C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1159+155C>T MANE Select | NP_061176.4:n.1159+155C>T |
| ENST00000263035.9:c.1159+155C>T MANE Select | ENSP00000263035.4:n.1159+155C>T |
| NM_018706.6:c.1159+155C>T | NP_061176.3:n.1159+155C>T |
| ENST00000263035.8:c.1159+155C>T | ENSP00000263035.4:n.1159+155C>T |
| ENST00000415935.1:c.253+155C>T | ENSP00000400625.1:n.253+155C>T |
| ENST00000465617.1:n.300-2234C>T |