Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49964290C>G , CM000674.2:g.49964290C>G | GRCh38 |
| NC_000012.11:g.50358073C>G , CM000674.1:g.50358073C>G | GRCh37 |
| NC_000012.10:g.48644340C>G | NCBI36 |
| NG_033883.1:g.7795C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001651.4:c.612+115C>G MANE Select | NP_001642.1:n.612+115C>G |
| ENST00000293599.7:c.612+115C>G MANE Select | ENSP00000293599.5:n.612+115C>G |
| NM_001651.3:c.612+115C>G | NP_001642.1:n.612+115C>G |
| ENST00000293599.6:c.612+115C>G | ENSP00000293599.5:n.612+115C>G |
| ENST00000553132.1:n.601+115C>G | |
| XM_005268838.2:c.612+115C>G | XP_005268895.1:n.612+115C>G |