Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42960566A>G , CM000677.2:g.42960566A>G | GRCh38 |
| NC_000015.9:g.43252764A>G , CM000677.1:g.43252764A>G | GRCh37 |
| NC_000015.8:g.41040056A>G | NCBI36 |
| NG_012182.1:g.150523T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4757+79T>C MANE Select | ENSP00000290650.4:n.4757+79T>C | |
| ENST00000290650.8:c.4757+79T>C | ENSP00000290650.4:n.4757+79T>C | |
| NM_174916.2:c.4757+79T>C | NP_777576.1:n.4757+79T>C | |
| NM_174916.3:c.4757+79T>C MANE Select | NP_777576.1:n.4757+79T>C |