Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43037889A>C , CM000677.2:g.43037889A>C | GRCh38 |
| NC_000015.9:g.43330087A>C , CM000677.1:g.43330087A>C | GRCh37 |
| NC_000015.8:g.41117379A>C | NCBI36 |
| NG_012182.1:g.73200T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.1912-6T>G MANE Select | ENSP00000290650.4:n.1912-6T>G | |
| ENST00000290650.8:c.1912-6T>G | ENSP00000290650.4:n.1912-6T>G | |
| ENST00000546274.6:c.1912-6T>G | ENSP00000477932.1:n.1912-6T>G | |
| NM_174916.2:c.1912-6T>G | NP_777576.1:n.1912-6T>G | |
| NM_174916.3:c.1912-6T>G MANE Select | NP_777576.1:n.1912-6T>G |