Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.100811995G>T , CM000667.2:g.100811995G>T | GRCh38 |
| NC_000005.9:g.100147699G>T , CM000667.1:g.100147699G>T | GRCh37 |
| NC_000005.8:g.100175598G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005668.6:c.932C>A MANE Select | NP_005659.1:p.Ala311Glu |
| ENST00000231461.10:c.932C>A MANE Select | ENSP00000231461.4:p.Ala311Glu |
| NM_005668.5:c.932C>A | NP_005659.1:p.Ala311Glu |
| ENST00000231461.9:c.932C>A | ENSP00000231461.4:p.Ala311Glu |
| XM_011543630.1:c.638C>A | XP_011541932.1:p.Ala213Glu |
| XM_011543630.2:c.638C>A | XP_011541932.1:p.Ala213Glu |