gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3000069A>G , CM000668.2:g.3000069A>G | GRCh38 |
| NC_000006.11:g.3000303A>G , CM000668.1:g.3000303A>G | GRCh37 |
| NC_000006.10:g.2945302A>G | NCBI36 |
| NG_034013.1:g.5254A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338130.7:c.-617A>G | ENSP00000337773.2:n.-617A>G | |
| ENST00000380455.11:c.-102A>G MANE Select | ENSP00000369822.4:n.-102A>G | |
| ENST00000397717.7:c.-223A>G | ENSP00000380829.2:n.-223A>G | |
| ENST00000338130.6:c.-617A>G | ENSP00000337773.2:n.-617A>G | |
| ENST00000380441.5:c.-259A>G | ENSP00000369806.1:n.-259A>G | |
| ENST00000380454.8:c.-102A>G | ENSP00000369821.4:n.-102A>G | |
| ENST00000380455.8:c.-102A>G | ENSP00000369822.4:n.-102A>G | |
| ENST00000380472.7:c.-86+6016A>G | ENSP00000369839.3:n.-86+6016A>G | |
| ENST00000397717.6:c.-223A>G | ENSP00000380829.2:n.-223A>G | |
| ENST00000426637.5:c.-86+6016A>G | ENSP00000406951.1:n.-86+6016A>G | |
| NM_000904.4:c.-102A>G | NP_000895.2:n.-102A>G | |
| NM_001290221.1:c.-617A>G | NP_001277150.1:n.-617A>G | |
| NM_001290222.1:c.-102A>G | NP_001277151.1:n.-102A>G | |
| XM_005249148.2:c.-259A>G | XP_005249205.1:n.-259A>G | |
| XM_005249149.2:c.-380A>G | XP_005249206.1:n.-380A>G | |
| XM_005249150.2:c.-223A>G | XP_005249207.1:n.-223A>G | |
| XM_006715100.1:c.-460A>G | XP_006715163.1:n.-460A>G | |
| XM_011514643.1:c.-600-1981A>G | XP_011512945.1:n.-600-1981A>G | |
| XM_011514644.1:c.-86+6016A>G | XP_011512946.1:n.-86+6016A>G | |
| XM_011514646.1:c.-86+1025A>G | XP_011512948.1:n.-86+1025A>G | |
| NM_000904.6:c.-102A>G MANE Select | NP_000895.2:n.-102A>G | |
| NM_001290221.2:c.-617A>G | NP_001277150.1:n.-617A>G | |
| NM_001290222.2:c.-102A>G | NP_001277151.1:n.-102A>G | |
| NM_001318940.2:c.-384A>G | NP_001305869.1:n.-384A>G |