Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43029943C>G , CM000677.2:g.43029943C>G | GRCh38 |
| NC_000015.9:g.43322141C>G , CM000677.1:g.43322141C>G | GRCh37 |
| NC_000015.8:g.41109433C>G | NCBI36 |
| NG_012182.1:g.81146G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.2379+1G>C MANE Select | NP_777576.1:n.2379+1G>C |
| ENST00000290650.9:c.2379+1G>C MANE Select | ENSP00000290650.4:n.2379+1G>C |
| NM_174916.2:c.2379+1G>C | NP_777576.1:n.2379+1G>C |
| ENST00000290650.8:c.2379+1G>C | ENSP00000290650.4:n.2379+1G>C |
| ENST00000546274.6:c.2379+1G>C | ENSP00000477932.1:n.2379+1G>C |
| ENST00000569066.2:c.414+1G>C | ENSP00000456327.1:n.414+1G>C |