Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164679G>T , CM000664.2:g.227164679G>T | GRCh38 |
| NC_000002.11:g.228029395G>T , CM000664.1:g.228029395G>T | GRCh37 |
| NC_000002.10:g.227737639G>T | NCBI36 |
| NG_011591.1:g.5115G>T , LRG_230:g.5115G>T | |
| NG_011592.1:g.4881C>A , LRG_231:g.4881C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.-48G>T MANE Select | ENSP00000379823.3:n.-48G>T | |
| ENST00000396578.7:c.-48G>T | ENSP00000379823.3:n.-48G>T | |
| NM_000091.4:c.-48G>T , LRG_230t1:c.-48G>T | NP_000082.2:n.-48G>T | |
| XM_005246276.2:c.-48G>T | XP_005246333.1:n.-48G>T | |
| XM_005246277.2:c.-48G>T | XP_005246334.1:n.-48G>T | |
| XM_005246280.2:c.-48G>T | XP_005246337.1:n.-48G>T | |
| XM_006712245.2:c.-48G>T | XP_006712308.1:n.-48G>T | |
| XM_011510555.1:c.-48G>T | XP_011508857.1:n.-48G>T | |
| XR_241280.2:n.91G>T | ||
| XM_005246277.3:c.-48G>T | XP_005246334.1:n.-48G>T | |
| XM_005246280.3:c.-48G>T | XP_005246337.1:n.-48G>T | |
| XM_006712245.3:c.-48G>T | XP_006712308.1:n.-48G>T | |
| XM_017003295.1:c.-48G>T | XP_016858784.1:n.-48G>T | |
| XR_001738601.1:n.91G>T | ||
| XR_241280.3:n.91G>T | ||
| NM_000091.5:c.-48G>T MANE Select | NP_000082.2:n.-48G>T |