Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913200G>A , CM000674.2:g.110913200G>A | GRCh38 |
| NC_000012.11:g.111351004G>A , CM000674.1:g.111351004G>A | GRCh37 |
| NC_000012.10:g.109835387G>A | NCBI36 |
| NG_007554.1:g.12378C>T , LRG_393:g.12378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.353+46C>T MANE Select | ENSP00000228841.8:n.353+46C>T | |
| ENST00000663220.1:c.296+46C>T | ENSP00000499568.1:n.296+46C>T | |
| ENST00000228841.12:c.353+46C>T | ENSP00000228841.7:n.353+46C>T | |
| ENST00000548438.1:c.311+46C>T | ENSP00000447154.1:n.311+46C>T | |
| ENST00000549029.1:n.230C>T | ||
| NM_000432.3:c.353+46C>T , LRG_393t1:c.353+46C>T | NP_000423.2:n.353+46C>T | |
| NM_000432.4:c.353+46C>T MANE Select | NP_000423.2:n.353+46C>T |