Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48456284C>A , CM000675.2:g.48456284C>A | GRCh38 |
| NC_000013.10:g.49030420C>A , CM000675.1:g.49030420C>A | GRCh37 |
| NC_000013.9:g.47928421C>A | NCBI36 |
| NG_009009.1:g.157538C>A , LRG_517:g.157538C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1895C>A MANE Select | NP_000312.2:p.Ala632Glu |
| ENST00000267163.6:c.1895C>A MANE Select | ENSP00000267163.4:p.Ala632Glu |
| NM_000321.2:c.1895C>A , LRG_517t1:c.1895C>A | NP_000312.2:p.Ala632Glu |
| ENST00000267163.4:c.1895C>A | ENSP00000267163.4:p.Ala632Glu |
| ENST00000480491.1:n.594C>A | |
| ENST00000643064.1:c.194+74841C>A | |
| ENST00000650461.1:c.1895C>A | ENSP00000497193.1:p.Ala632Glu |
| XM_011535171.1:c.1634C>A | XP_011533473.1:p.Ala545Glu |
| XM_011535171.2:c.1634C>A | XP_011533473.1:p.Ala545Glu |