Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145857A= , CM000670.2:g.38145857A= | GRCh38 |
| NC_000008.10:g.38003375A= , CM000670.1:g.38003375A= | GRCh37 |
| NC_000008.9:g.38122532A= | NCBI36 |
| NG_011827.1:g.10226T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.650+106T= MANE Select | ENSP00000276449.3:n.650+106T= | |
| ENST00000276449.8:c.650+106T= | ENSP00000276449.3:n.650+106T= | |
| ENST00000520114.1:n.1243T= | ||
| ENST00000522050.1:c.586+106T= | ||
| NM_000349.2:c.650+106T= | NP_000340.2:n.650+106T= | |
| XM_006716392.1:c.650+106T= | XP_006716455.1:n.650+106T= | |
| NM_000349.3:c.650+106T= MANE Select | NP_000340.2:n.650+106T= |