Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527001C>A , CM000685.2:g.48527001C>A | GRCh38 |
| NC_000023.10:g.48385389C>A , CM000685.1:g.48385389C>A | GRCh37 |
| NC_000023.9:g.48270333C>A | NCBI36 |
| NG_007452.1:g.10226C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.314C>A MANE Select | ENSP00000417052.1:p.Ala105Asp | |
| ENST00000651615.1:c.314C>A | ENSP00000498524.1:p.Ala105Asp | |
| ENST00000276096.10:n.272C>A | ||
| ENST00000414061.1:c.314C>A | ENSP00000405832.1:p.Ala105Asp | |
| ENST00000446158.5:c.314C>A | ENSP00000390031.1:p.Ala105Asp | |
| ENST00000466461.1:n.153C>A | ||
| ENST00000495186.5:c.314C>A | ENSP00000417052.1:p.Ala105Asp | |
| ENST00000498425.1:n.435C>A | ||
| NM_006579.2:c.314C>A | NP_006570.1:p.Ala105Asp | |
| NM_006579.3:c.314C>A MANE Select | NP_006570.1:p.Ala105Asp |