Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43032566A>G , CM000677.2:g.43032566A>G | GRCh38 |
| NC_000015.9:g.43324764A>G , CM000677.1:g.43324764A>G | GRCh37 |
| NC_000015.8:g.41112056A>G | NCBI36 |
| NG_012182.1:g.78523T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.2254+2T>C MANE Select | NP_777576.1:n.2254+2T>C |
| ENST00000290650.9:c.2254+2T>C MANE Select | ENSP00000290650.4:n.2254+2T>C |
| NM_174916.2:c.2254+2T>C | NP_777576.1:n.2254+2T>C |
| ENST00000290650.8:c.2254+2T>C | ENSP00000290650.4:n.2254+2T>C |
| ENST00000546274.6:c.2254+2T>C | ENSP00000477932.1:n.2254+2T>C |
| ENST00000569066.2:c.289+2T>C | ENSP00000456327.1:n.289+2T>C |