Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044016T>A , CM000663.2:g.55044016T>A | GRCh38 |
| NC_000001.10:g.55509689T>A , CM000663.1:g.55509689T>A | GRCh37 |
| NC_000001.9:g.55282277T>A | NCBI36 |
| NG_009061.1:g.9470T>A , LRG_275:g.9470T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.381T>A | ENSP00000501161.2:p.Ser127Arg | |
| ENST00000710286.1:c.738T>A | ENSP00000518176.1:p.Ser246Arg | |
| ENST00000673662.1:n.51T>A | ||
| ENST00000673726.1:c.381T>A | ENSP00000501004.1:p.Ser127Arg | |
| ENST00000673903.1:c.6T>A | ENSP00000501257.1:p.Ser2Arg | |
| ENST00000302118.5:c.381T>A MANE Select | ENSP00000303208.5:p.Ser127Arg | |
| NM_174936.3:c.381T>A , LRG_275t1:c.381T>A | NP_777596.2:p.Ser127Arg | |
| NR_110451.1:n.182+3613T>A | ||
| NM_174936.4:c.381T>A MANE Select | NP_777596.2:p.Ser127Arg | |
| NR_110451.2:n.182+3613T>A |