Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69816305A>G , CM000673.2:g.69816305A>G | GRCh38 |
| NC_000011.9:g.69631073A>G , CM000673.1:g.69631073A>G | GRCh37 |
| NC_000011.8:g.69340010A>G | NCBI36 |
| NG_009016.1:g.8120T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.324+15T>C MANE Select | NP_005238.1:n.324+15T>C |
| ENST00000334134.4:c.324+15T>C MANE Select | ENSP00000334122.2:n.324+15T>C |
| NM_005247.2:c.324+15T>C | NP_005238.1:n.324+15T>C |
| NM_005247.3:c.324+15T>C | NP_005238.1:n.324+15T>C |
| ENST00000334134.2:c.324+15T>C | ENSP00000334122.2:n.324+15T>C |
| ENST00000646078.1:n.171+15T>C |