gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186948673C>G , CM000665.2:g.186948673C>G | GRCh38 |
| NC_000003.11:g.186666461C>G , CM000665.1:g.186666461C>G | GRCh37 |
| NC_000003.10:g.188149155C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000169298.8:c.-324-15112C>G MANE Select | ENSP00000169298.3:n.-324-15112C>G | |
| ENST00000676786.1:n.511-15112C>G | ||
| ENST00000677292.1:c.-408-182C>G | ENSP00000503457.1:n.-408-182C>G | |
| ENST00000169298.7:c.-324-15112C>G | ENSP00000169298.3:n.-324-15112C>G | |
| ENST00000417392.5:c.-324-15112C>G | ENSP00000407631.1:n.-324-15112C>G | |
| ENST00000427315.5:c.-87+17839C>G | ENSP00000412821.1:n.-87+17839C>G | |
| ENST00000430309.5:c.-324-15112C>G | ENSP00000399525.1:n.-324-15112C>G | |
| ENST00000455441.5:c.-228-15112C>G | ENSP00000397273.1:n.-228-15112C>G | |
| ENST00000457772.6:c.-360-15112C>G | ENSP00000412221.2:n.-360-15112C>G | |
| ENST00000458216.5:c.-374-15112C>G | ENSP00000400547.1:n.-374-15112C>G | |
| ENST00000463542.1:n.413+6246C>G | ||
| ENST00000468614.1:n.63-15112C>G | ||
| ENST00000487031.5:n.310-11C>G | ||
| NM_173216.2:c.-324-15112C>G MANE Select | NP_775323.1:n.-324-15112C>G | |
| NM_173217.2:c.-360-15112C>G | NP_775324.1:n.-360-15112C>G | |
| XM_005247717.2:c.-450-15112C>G | XP_005247774.1:n.-450-15112C>G | |
| XM_006713734.1:c.-579-11C>G | XP_006713797.1:n.-579-11C>G | |
| XM_011513085.1:c.-325+6246C>G | XP_011511387.1:n.-325+6246C>G | |
| XR_924163.1:n.351-15112C>G |