Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7849159G>T , CM000668.2:g.7849159G>T | GRCh38 |
| NC_000006.11:g.7849392G>T , CM000668.1:g.7849392G>T | GRCh37 |
| NC_000006.10:g.7794391G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283147.7:c.857+3827G>T MANE Select | ENSP00000283147.6:n.857+3827G>T | |
| ENST00000283147.6:c.857+3827G>T | ENSP00000283147.6:n.857+3827G>T | |
| NM_001718.4:c.857+3827G>T | NP_001709.1:n.857+3827G>T | |
| NM_001718.5:c.857+3827G>T | NP_001709.1:n.857+3827G>T | |
| NM_001718.6:c.857+3827G>T MANE Select | NP_001709.1:n.857+3827G>T |