Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78657726T>G , CM000685.2:g.78657726T>G | GRCh38 |
| NC_000023.10:g.77913223T>G , CM000685.1:g.77913223T>G | GRCh37 |
| NC_000023.9:g.77799879T>G | NCBI36 |
| NG_015973.1:g.6603A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152694.3:c.695A>C MANE Select | NP_689907.1:p.Glu232Ala |
| ENST00000321110.2:c.695A>C MANE Select | ENSP00000316794.1:p.Glu232Ala |
| NM_152694.2:c.695A>C | NP_689907.1:p.Glu232Ala |
| ENST00000321110.1:c.695A>C | ENSP00000316794.1:p.Glu232Ala |
| XM_011530886.1:c.695A>C | XP_011529188.1:p.Glu232Ala |
| XR_001755900.1:n.452+4212T>G |