Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47588489C>A , CM000685.2:g.47588489C>A | GRCh38 |
| NC_000023.10:g.47447888C>A , CM000685.1:g.47447888C>A | GRCh37 |
| NC_000023.9:g.47332832C>A | NCBI36 |
| NG_008437.1:g.36369G>T | |
| NG_012533.1:g.11199C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.775-10988G>T MANE Select | ENSP00000295987.7:n.775-10988G>T | |
| ENST00000340666.5:c.775-10988G>T | ENSP00000343206.4:n.775-10988G>T | |
| ENST00000295987.11:c.775-10988G>T | ENSP00000295987.7:n.775-10988G>T | |
| ENST00000340666.4:c.775-10988G>T | ENSP00000343206.4:n.775-10988G>T | |
| NM_006950.3:c.775-10988G>T MANE Select | NP_008881.2:n.775-10988G>T | |
| NM_133499.2:c.775-10988G>T | NP_598006.1:n.775-10988G>T |