Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18611437T= , CM000673.2:g.18611437T= | GRCh38 |
| NC_000011.9:g.18632984T= , CM000673.1:g.18632984T= | GRCh37 |
| NC_000011.8:g.18589560T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194285.3:c.1964+40A= MANE Select | NP_919261.2:n.1964+40A= |
| ENST00000336349.6:c.1964+40A= MANE Select | ENSP00000337991.5:n.1964+40A= |
| NM_194285.2:c.1964+40A= | NP_919261.2:n.1964+40A= |
| ENST00000336349.5:c.1964+40A= | ENSP00000337991.5:n.1964+40A= |
| XM_011519919.1:c.1712+40A= | XP_011518221.1:n.1712+40A= |
| XM_011519919.2:c.1712+40A= | XP_011518221.1:n.1712+40A= |