Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164597A>C , CM000664.2:g.227164597A>C | GRCh38 |
| NC_000002.11:g.228029313A>C , CM000664.1:g.228029313A>C | GRCh37 |
| NC_000002.10:g.227737557A>C | NCBI36 |
| NG_011591.1:g.5033A>C , LRG_230:g.5033A>C | |
| NG_011592.1:g.4963T>G , LRG_231:g.4963T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.7:c.-130A>C | ENSP00000379823.3:n.-130A>C | |
| NM_000091.4:c.-130A>C , LRG_230t1:c.-130A>C | NP_000082.2:n.-130A>C | |
| XM_005246276.2:c.-130A>C | XP_005246333.1:n.-130A>C | |
| XM_005246277.2:c.-130A>C | XP_005246334.1:n.-130A>C | |
| XM_005246280.2:c.-130A>C | XP_005246337.1:n.-130A>C | |
| XM_006712245.2:c.-130A>C | XP_006712308.1:n.-130A>C | |
| XM_011510555.1:c.-130A>C | XP_011508857.1:n.-130A>C | |
| XR_241280.2:n.9A>C | ||
| XM_005246277.3:c.-130A>C | XP_005246334.1:n.-130A>C | |
| XM_005246280.3:c.-130A>C | XP_005246337.1:n.-130A>C | |
| XM_006712245.3:c.-130A>C | XP_006712308.1:n.-130A>C | |
| XM_017003295.1:c.-130A>C | XP_016858784.1:n.-130A>C | |
| XR_001738601.1:n.9A>C | ||
| XR_241280.3:n.9A>C |