Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66430035A>G , CM000670.2:g.66430035A>G | GRCh38 |
| NC_000008.10:g.67342270A>G , CM000670.1:g.67342270A>G | GRCh37 |
| NC_000008.9:g.67504824A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015169.4:c.904A>G MANE Select | NP_055984.1:p.Lys302Glu |
| ENST00000320270.4:c.904A>G MANE Select | ENSP00000322396.2:p.Lys302Glu |
| NM_015169.3:c.904A>G | NP_055984.1:p.Lys302Glu |
| ENST00000320270.3:c.904A>G | ENSP00000322396.2:p.Lys302Glu |
| XR_428359.2:n.135+2249T>C | |
| XR_428359.3:n.137+2249T>C | |
| XR_929012.1:n.135+2249T>C | |
| XR_929012.2:n.136+2249T>C | |
| XR_929013.1:n.135+2249T>C | |
| XR_929013.2:n.136+2249T>C |