Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17126711C>A , CM000672.2:g.17126711C>A | GRCh38 |
| NC_000010.10:g.17168710C>A , CM000672.1:g.17168710C>A | GRCh37 |
| NC_000010.9:g.17208716C>A | NCBI36 |
| NG_008967.1:g.8107G>T , LRG_540:g.8107G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.387+50G>T MANE Select | ENSP00000367064.4:n.387+50G>T | |
| ENST00000377823.1:c.387+50G>T | ENSP00000367054.1:n.387+50G>T | |
| ENST00000377833.8:c.387+50G>T | ENSP00000367064.4:n.387+50G>T | |
| ENST00000433666.5:c.48+50G>T | ENSP00000415970.1:n.48+50G>T | |
| NM_001081.3:c.387+50G>T , LRG_540t1:c.387+50G>T | NP_001072.2:n.387+50G>T | |
| XM_011519708.1:c.387+50G>T | XP_011518010.1:n.387+50G>T | |
| XM_011519708.2:c.387+50G>T | XP_011518010.1:n.387+50G>T | |
| NM_001081.4:c.387+50G>T MANE Select | NP_001072.2:n.387+50G>T |