Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.97811846C>A , CM000670.2:g.97811846C>A | GRCh38 |
| NC_000008.10:g.98824074C>A , CM000670.1:g.98824074C>A | GRCh37 |
| NC_000008.9:g.98893250C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018407.6:c.212-3482C>A MANE Select | NP_060877.4:n.212-3482C>A |
| ENST00000521545.7:c.212-3482C>A MANE Select | ENSP00000428409.1:n.212-3482C>A |
| NM_018407.4:c.485-3482C>A | NP_060877.3:n.485-3482C>A |
| NM_018407.5:c.212-3482C>A | NP_060877.4:n.212-3482C>A |
| ENST00000445593.6:c.485-3482C>A | ENSP00000402301.2:n.485-3482C>A |
| ENST00000517924.5:c.212-3458C>A | ENSP00000429868.2:n.212-3458C>A |
| ENST00000521545.6:c.212-3482C>A | ENSP00000428409.1:n.212-3482C>A |
| ENST00000619747.1:c.485-3482C>A | ENSP00000482533.1:n.485-3482C>A |