Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043958T>G , CM000663.2:g.55043958T>G | GRCh38 |
| NC_000001.10:g.55509631T>G , CM000663.1:g.55509631T>G | GRCh37 |
| NC_000001.9:g.55282219T>G | NCBI36 |
| NG_009061.1:g.9412T>G , LRG_275:g.9412T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.323T>G | ENSP00000501161.2:p.Leu108Arg | |
| ENST00000710286.1:c.680T>G | ENSP00000518176.1:p.Leu227Arg | |
| ENST00000673726.1:c.323T>G | ENSP00000501004.1:p.Leu108Arg | |
| ENST00000673903.1:c.-53T>G | ENSP00000501257.1:n.-53T>G | |
| ENST00000302118.5:c.323T>G MANE Select | ENSP00000303208.5:p.Leu108Arg | |
| NM_174936.3:c.323T>G , LRG_275t1:c.323T>G | NP_777596.2:p.Leu108Arg | |
| NR_110451.1:n.182+3555T>G | ||
| NM_174936.4:c.323T>G MANE Select | NP_777596.2:p.Leu108Arg | |
| NR_110451.2:n.182+3555T>G |