Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820153A>C , CM000682.2:g.31820153A>C | GRCh38 |
| NC_000020.10:g.30407956A>C , CM000682.1:g.30407956A>C | GRCh37 |
| NC_000020.9:g.29871617A>C | NCBI36 |
| NG_012847.1:g.5779A>C , LRG_392:g.5779A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.80A>C MANE Select | ENSP00000365152.4:p.Glu27Ala | |
| ENST00000375985.4:c.80A>C | ENSP00000365152.4:p.Glu27Ala | |
| ENST00000375994.6:c.80A>C | ENSP00000365162.2:p.Glu27Ala | |
| NM_033118.3:c.80A>C , LRG_392t1:c.80A>C | NP_149109.1:p.Glu27Ala | |
| XR_244155.1:n.245A>C | ||
| NM_033118.4:c.80A>C MANE Select | NP_149109.1:p.Glu27Ala |