Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578648T>G , CM000672.2:g.110578648T>G | GRCh38 |
| NC_000010.10:g.112338406T>G , CM000672.1:g.112338406T>G | GRCh37 |
| NC_000010.9:g.112328396T>G | NCBI36 |
| NG_012217.1:g.15958T>G , LRG_774:g.15958T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.504T>G | ||
| ENST00000687823.1:n.285T>G | ||
| ENST00000689932.1:n.2434T>G | ||
| ENST00000691297.1:n.504T>G | ||
| ENST00000691527.1:n.1174T>G | ||
| ENST00000692792.1:n.490T>G | ||
| ENST00000361804.5:c.371T>G MANE Select | ENSP00000354720.5:p.Leu124Arg | |
| ENST00000361804.4:c.371T>G | ENSP00000354720.4:p.Leu124Arg | |
| ENST00000462899.1:n.517T>G | ||
| NM_005445.3:c.371T>G , LRG_774t1:c.371T>G | NP_005436.1:p.Leu124Arg | |
| NM_005445.4:c.371T>G MANE Select | NP_005436.1:p.Leu124Arg |