Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43048390A>C , CM000677.2:g.43048390A>C | GRCh38 |
| NC_000015.9:g.43340588A>C , CM000677.1:g.43340588A>C | GRCh37 |
| NC_000015.8:g.41127880A>C | NCBI36 |
| NG_012182.1:g.62699T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.1539+2T>G MANE Select | NP_777576.1:n.1539+2T>G |
| ENST00000290650.9:c.1539+2T>G MANE Select | ENSP00000290650.4:n.1539+2T>G |
| NM_174916.2:c.1539+2T>G | NP_777576.1:n.1539+2T>G |
| ENST00000290650.8:c.1539+2T>G | ENSP00000290650.4:n.1539+2T>G |
| ENST00000546274.6:c.1539+2T>G | ENSP00000477932.1:n.1539+2T>G |
| ENST00000563239.1:c.*203-1101T>G | ENSP00000456502.1:n.*203-1101T>G |
| ENST00000569971.5:c.410+2T>G | ENSP00000455759.1:n.410+2T>G |