dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7877186A>T , CM000668.2:g.7877186A>T | GRCh38 |
| NC_000006.11:g.7877419A>T , CM000668.1:g.7877419A>T | GRCh37 |
| NC_000006.10:g.7822418A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283147.7:c.1205-1888A>T MANE Select | ENSP00000283147.6:n.1205-1888A>T | |
| ENST00000283147.6:c.1205-1888A>T | ENSP00000283147.6:n.1205-1888A>T | |
| NM_001718.4:c.1205-1888A>T | NP_001709.1:n.1205-1888A>T | |
| NM_001718.5:c.1205-1888A>T | NP_001709.1:n.1205-1888A>T | |
| NM_001718.6:c.1205-1888A>T MANE Select | NP_001709.1:n.1205-1888A>T |