Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565447G= , CM000664.2:g.189565447G= | GRCh38 |
| NC_000002.11:g.190430173G= , CM000664.1:g.190430173G= | GRCh37 |
| NC_000002.10:g.190138418G= | NCBI36 |
| NG_009027.1:g.20365C= , LRG_837:g.20365C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.667C= MANE Select | ENSP00000261024.3:p.Leu223= | |
| ENST00000261024.6:c.667C= | ENSP00000261024.2:p.Leu223= | |
| NM_014585.5:c.667C= , LRG_837t1:c.667C= | NP_055400.1:p.Leu223= | |
| XM_005246505.1:c.547C= | XP_005246562.1:p.Leu183= | |
| XM_005246505.2:c.547C= | XP_005246562.1:p.Leu183= | |
| XM_017003938.2:c.547C= | XP_016859427.1:p.Leu183= | |
| NM_014585.6:c.667C= MANE Select | NP_055400.1:p.Leu223= |