Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044031G>C , CM000663.2:g.55044031G>C | GRCh38 |
| NC_000001.10:g.55509704G>C , CM000663.1:g.55509704G>C | GRCh37 |
| NC_000001.9:g.55282292G>C | NCBI36 |
| NG_009061.1:g.9485G>C , LRG_275:g.9485G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.396G>C | ENSP00000501161.2:p.Glu132Asp | |
| ENST00000710286.1:c.753G>C | ENSP00000518176.1:p.Glu251Asp | |
| ENST00000673662.1:n.66G>C | ||
| ENST00000673726.1:c.396G>C | ENSP00000501004.1:p.Glu132Asp | |
| ENST00000673903.1:c.21G>C | ENSP00000501257.1:p.Glu7Asp | |
| ENST00000302118.5:c.396G>C MANE Select | ENSP00000303208.5:p.Glu132Asp | |
| NM_174936.3:c.396G>C , LRG_275t1:c.396G>C | NP_777596.2:p.Glu132Asp | |
| NR_110451.1:n.182+3628G>C | ||
| NM_174936.4:c.396G>C MANE Select | NP_777596.2:p.Glu132Asp | |
| NR_110451.2:n.182+3628G>C |