Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846840G>C , CM000674.2:g.121846840G>C | GRCh38 |
| NC_000012.11:g.122284746G>C , CM000674.1:g.122284746G>C | GRCh37 |
| NC_000012.10:g.120769129G>C | NCBI36 |
| NG_016461.1:g.46772C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.831+22C>G MANE Select | ENSP00000289004.4:n.831+22C>G | |
| ENST00000543163.5:c.714+22C>G | ENSP00000441677.1:n.714+22C>G | |
| NM_001171993.1:c.714+22C>G | NP_001165464.1:n.714+22C>G | |
| NM_002150.2:c.831+22C>G | NP_002141.1:n.831+22C>G | |
| NM_002150.3:c.831+22C>G MANE Select | NP_002141.2:n.831+22C>G | |
| NM_001171993.2:c.714+22C>G | NP_001165464.1:n.714+22C>G |