Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164774C= , CM000664.2:g.227164774C= | GRCh38 |
| NC_000002.11:g.228029490C= , CM000664.1:g.228029490C= | GRCh37 |
| NC_000002.10:g.227737734C= | NCBI36 |
| NG_011591.1:g.5210C= , LRG_230:g.5210C= | |
| NG_011592.1:g.4786G= , LRG_231:g.4786G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.48C= MANE Select | ENSP00000379823.3:p.Leu16= | |
| ENST00000396578.7:c.48C= | ENSP00000379823.3:p.Leu16= | |
| NM_000091.4:c.48C= , LRG_230t1:c.48C= | NP_000082.2:p.Leu16= | |
| XM_005246276.2:c.48C= | XP_005246333.1:p.Leu16= | |
| XM_005246277.2:c.48C= | XP_005246334.1:p.Leu16= | |
| XM_005246280.2:c.48C= | XP_005246337.1:p.Leu16= | |
| XM_006712245.2:c.48C= | XP_006712308.1:p.Leu16= | |
| XM_011510555.1:c.48C= | XP_011508857.1:p.Leu16= | |
| XR_241280.2:n.186C= | ||
| XM_005246277.3:c.48C= | XP_005246334.1:p.Leu16= | |
| XM_005246280.3:c.48C= | XP_005246337.1:p.Leu16= | |
| XM_006712245.3:c.48C= | XP_006712308.1:p.Leu16= | |
| XM_017003295.1:c.48C= | XP_016858784.1:p.Leu16= | |
| XR_001738601.1:n.186C= | ||
| XR_241280.3:n.186C= | ||
| NM_000091.5:c.48C= MANE Select | NP_000082.2:p.Leu16= |