Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164768G>C , CM000664.2:g.227164768G>C | GRCh38 |
| NC_000002.11:g.228029484G>C , CM000664.1:g.228029484G>C | GRCh37 |
| NC_000002.10:g.227737728G>C | NCBI36 |
| NG_011591.1:g.5204G>C , LRG_230:g.5204G>C | |
| NG_011592.1:g.4792C>G , LRG_231:g.4792C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.42G>C MANE Select | ENSP00000379823.3:p.Leu14= | |
| ENST00000396578.7:c.42G>C | ENSP00000379823.3:p.Leu14= | |
| NM_000091.4:c.42G>C , LRG_230t1:c.42G>C | NP_000082.2:p.Leu14= | |
| XM_005246276.2:c.42G>C | XP_005246333.1:p.Leu14= | |
| XM_005246277.2:c.42G>C | XP_005246334.1:p.Leu14= | |
| XM_005246280.2:c.42G>C | XP_005246337.1:p.Leu14= | |
| XM_006712245.2:c.42G>C | XP_006712308.1:p.Leu14= | |
| XM_011510555.1:c.42G>C | XP_011508857.1:p.Leu14= | |
| XR_241280.2:n.180G>C | ||
| XM_005246277.3:c.42G>C | XP_005246334.1:p.Leu14= | |
| XM_005246280.3:c.42G>C | XP_005246337.1:p.Leu14= | |
| XM_006712245.3:c.42G>C | XP_006712308.1:p.Leu14= | |
| XM_017003295.1:c.42G>C | XP_016858784.1:p.Leu14= | |
| XR_001738601.1:n.180G>C | ||
| XR_241280.3:n.180G>C | ||
| NM_000091.5:c.42G>C MANE Select | NP_000082.2:p.Leu14= |