Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106393080A>C , CM000674.2:g.106393080A>C | GRCh38 |
| NC_000012.11:g.106786858A>C , CM000674.1:g.106786858A>C | GRCh37 |
| NC_000012.10:g.105310988A>C | NCBI36 |
| NG_031837.1:g.40423A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.773A>C MANE Select | ENSP00000228347.4:p.Glu258Ala | |
| ENST00000228347.8:c.773A>C | ENSP00000228347.4:p.Glu258Ala | |
| ENST00000539066.5:c.599A>C | ENSP00000445721.1:p.Glu200Ala | |
| ENST00000549569.1:c.47A>C | ENSP00000448398.1:p.Glu16Ala | |
| NM_001160708.1:c.599A>C | NP_001154180.1:p.Glu200Ala | |
| NM_018082.5:c.773A>C | NP_060552.4:p.Glu258Ala | |
| XM_017019621.2:c.773A>C | XP_016875110.1:p.Glu258Ala | |
| NM_018082.6:c.773A>C MANE Select | NP_060552.4:p.Glu258Ala | |
| NM_001160708.2:c.599A>C | NP_001154180.1:p.Glu200Ala |