Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164677G>C , CM000664.2:g.227164677G>C | GRCh38 |
| NC_000002.11:g.228029393G>C , CM000664.1:g.228029393G>C | GRCh37 |
| NC_000002.10:g.227737637G>C | NCBI36 |
| NG_011591.1:g.5113G>C , LRG_230:g.5113G>C | |
| NG_011592.1:g.4883C>G , LRG_231:g.4883C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.-50G>C MANE Select | ENSP00000379823.3:n.-50G>C | |
| ENST00000396578.7:c.-50G>C | ENSP00000379823.3:n.-50G>C | |
| NM_000091.4:c.-50G>C , LRG_230t1:c.-50G>C | NP_000082.2:n.-50G>C | |
| XM_005246276.2:c.-50G>C | XP_005246333.1:n.-50G>C | |
| XM_005246277.2:c.-50G>C | XP_005246334.1:n.-50G>C | |
| XM_005246280.2:c.-50G>C | XP_005246337.1:n.-50G>C | |
| XM_006712245.2:c.-50G>C | XP_006712308.1:n.-50G>C | |
| XM_011510555.1:c.-50G>C | XP_011508857.1:n.-50G>C | |
| XR_241280.2:n.89G>C | ||
| XM_005246277.3:c.-50G>C | XP_005246334.1:n.-50G>C | |
| XM_005246280.3:c.-50G>C | XP_005246337.1:n.-50G>C | |
| XM_006712245.3:c.-50G>C | XP_006712308.1:n.-50G>C | |
| XM_017003295.1:c.-50G>C | XP_016858784.1:n.-50G>C | |
| XR_001738601.1:n.89G>C | ||
| XR_241280.3:n.89G>C | ||
| NM_000091.5:c.-50G>C MANE Select | NP_000082.2:n.-50G>C |