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