Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565448C>A , CM000664.2:g.189565448C>A | GRCh38 |
| NC_000002.11:g.190430174C>A , CM000664.1:g.190430174C>A | GRCh37 |
| NC_000002.10:g.190138419C>A | NCBI36 |
| NG_009027.1:g.20364G>T , LRG_837:g.20364G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.666G>T MANE Select | ENSP00000261024.3:p.Leu222= | |
| ENST00000261024.6:c.666G>T | ENSP00000261024.2:p.Leu222= | |
| NM_014585.5:c.666G>T , LRG_837t1:c.666G>T | NP_055400.1:p.Leu222= | |
| XM_005246505.1:c.546G>T | XP_005246562.1:p.Leu182= | |
| XM_005246505.2:c.546G>T | XP_005246562.1:p.Leu182= | |
| XM_017003938.2:c.546G>T | XP_016859427.1:p.Leu182= | |
| NM_014585.6:c.666G>T MANE Select | NP_055400.1:p.Leu222= |