Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7849102T>A , CM000668.2:g.7849102T>A | GRCh38 |
| NC_000006.11:g.7849335T>A , CM000668.1:g.7849335T>A | GRCh37 |
| NC_000006.10:g.7794334T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001718.6:c.857+3770T>A MANE Select | NP_001709.1:n.857+3770T>A |
| ENST00000283147.7:c.857+3770T>A MANE Select | ENSP00000283147.6:n.857+3770T>A |
| NM_001718.4:c.857+3770T>A | NP_001709.1:n.857+3770T>A |
| NM_001718.5:c.857+3770T>A | NP_001709.1:n.857+3770T>A |
| ENST00000283147.6:c.857+3770T>A | ENSP00000283147.6:n.857+3770T>A |