Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10897271G>A , CM000668.2:g.10897271G>A | GRCh38 |
| NC_000006.11:g.10897504G>A , CM000668.1:g.10897504G>A | GRCh37 |
| NC_000006.10:g.11005490G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.337-740G>A MANE Select | ENSP00000283141.6:n.337-740G>A | |
| ENST00000283141.10:c.337-740G>A | ENSP00000283141.6:n.337-740G>A | |
| ENST00000341041.8:c.337-740G>A | ENSP00000340320.4:n.337-740G>A | |
| ENST00000480294.1:c.*299-740G>A | ENSP00000417929.1:n.*299-740G>A | |
| ENST00000543878.5:c.334-740G>A | ENSP00000440676.2:n.334-740G>A | |
| NM_001040274.2:c.337-740G>A | NP_001035364.2:n.337-740G>A | |
| NM_001040274.3:c.337-740G>A MANE Select | NP_001035364.2:n.337-740G>A |