Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042170G>T , CM000674.2:g.56042170G>T | GRCh38 |
| NC_000012.11:g.56435954G>T , CM000674.1:g.56435954G>T | GRCh37 |
| NC_000012.10:g.54722221G>T | NCBI36 |
| NG_023201.1:g.5269G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029.5:c.3+1G>T MANE Select | NP_001020.2:n.3+1G>T |
| ENST00000646449.2:c.3+1G>T MANE Select | ENSP00000496643.1:n.3+1G>T |
| NM_001029.3:c.3+1G>T | NP_001020.2:n.3+1G>T |
| ENST00000356464.10:c.3+1G>T | ENSP00000348849.5:n.3+1G>T |
| ENST00000356464.9:c.3+1G>T | ENSP00000348849.5:n.3+1G>T |
| ENST00000548590.1:n.30+1G>T | |
| ENST00000552361.1:c.3+1G>T | ENSP00000450339.1:n.3+1G>T |