gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99521178C>G , CM000669.2:g.99521178C>G | GRCh38 |
| NC_000007.13:g.99118801C>G , CM000669.1:g.99118801C>G | GRCh37 |
| NC_000007.12:g.98956737C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326775.10:c.772+874C>G MANE Select | ENSP00000322872.5:n.772+874C>G | |
| ENST00000326775.9:c.772+874C>G | ENSP00000322872.5:n.772+874C>G | |
| ENST00000394170.6:c.772+874C>G | ENSP00000377725.2:n.772+874C>G | |
| ENST00000451158.5:c.772+874C>G | ENSP00000392104.1:n.772+874C>G | |
| ENST00000454175.1:c.636+1269C>G | ENSP00000405716.1:n.636+1269C>G | |
| NM_014569.3:c.772+874C>G | NP_055384.1:n.772+874C>G | |
| NM_145102.2:c.772+874C>G | NP_659570.1:n.772+874C>G | |
| XM_005250242.2:c.554-4635C>G | XP_005250299.1:n.554-4635C>G | |
| XM_005250243.2:c.-21+1269C>G | XP_005250300.1:n.-21+1269C>G | |
| XM_006715913.2:c.772+874C>G | XP_006715976.1:n.772+874C>G | |
| XM_011515999.1:c.325+874C>G | XP_011514301.1:n.325+874C>G | |
| NM_001318082.1:c.772+874C>G | NP_001305011.1:n.772+874C>G | |
| NM_001318083.1:c.554-4635C>G | NP_001305012.1:n.554-4635C>G | |
| NM_001318084.1:c.-21+1269C>G | NP_001305013.1:n.-21+1269C>G | |
| NM_145102.3:c.772+874C>G | NP_659570.1:n.772+874C>G | |
| XM_011515999.2:c.325+874C>G | XP_011514301.1:n.325+874C>G | |
| XM_017011921.2:c.769+874C>G | XP_016867410.1:n.769+874C>G | |
| XM_017011922.1:c.769+874C>G | XP_016867411.1:n.769+874C>G | |
| XM_017011924.1:c.554-4635C>G | XP_016867413.1:n.554-4635C>G | |
| XM_017011925.1:c.322+874C>G | XP_016867414.1:n.322+874C>G | |
| NM_001318082.2:c.772+874C>G | NP_001305011.1:n.772+874C>G | |
| NM_001318083.2:c.554-4635C>G | NP_001305012.1:n.554-4635C>G | |
| NM_014569.4:c.772+874C>G | NP_055384.1:n.772+874C>G | |
| NM_145102.4:c.772+874C>G MANE Select | NP_659570.1:n.772+874C>G |