Linked Data
dbSNP Id:
rs772807288
gnomAD v2:
1-78399191-C-G
gnomAD v3:
1-77933506-C-G
gnomAD v4:
1-77933506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77933506C>G , CM000663.2:g.77933506C>G | GRCh38 |
| NC_000001.10:g.78399191C>G , CM000663.1:g.78399191C>G | GRCh37 |
| NC_000001.9:g.78171779C>G | NCBI36 |
| NG_016625.1:g.49992C>G , LRG_442:g.49992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1251+27C>G MANE Select | ENSP00000333938.7:n.1251+27C>G | |
| ENST00000330010.12:c.1059+27C>G | ENSP00000327363.8:n.1059+27C>G | |
| ENST00000334785.11:c.1251+27C>G | ENSP00000333938.7:n.1251+27C>G | |
| ENST00000342754.5:c.950+27C>G | ||
| ENST00000440324.5:c.1209+27C>G | ENSP00000411902.1:n.1209+27C>G | |
| ENST00000464998.1:n.711+27C>G | ||
| ENST00000480732.2:n.825+27C>G | ||
| NM_001172309.1:c.1059+27C>G | NP_001165780.1:n.1059+27C>G | |
| NM_144573.3:c.1251+27C>G , LRG_442t1:c.1251+27C>G | NP_653174.3:n.1251+27C>G | |
| XM_005271322.2:c.1251+27C>G | XP_005271379.1:n.1251+27C>G | |
| XM_005271323.2:c.1209+27C>G | XP_005271380.1:n.1209+27C>G | |
| XM_005271324.3:c.1059+27C>G | XP_005271381.1:n.1059+27C>G | |
| XM_005271325.2:c.1251+27C>G | XP_005271382.1:n.1251+27C>G | |
| XM_005271326.2:c.1017+27C>G | XP_005271383.1:n.1017+27C>G | |
| XM_005271327.2:c.834+27C>G | XP_005271384.1:n.834+27C>G | |
| XM_005271322.4:c.1251+27C>G | XP_005271379.1:n.1251+27C>G | |
| XM_005271323.4:c.1209+27C>G | XP_005271380.1:n.1209+27C>G | |
| XM_005271324.5:c.1059+27C>G | XP_005271381.1:n.1059+27C>G | |
| XM_005271325.4:c.1251+27C>G | XP_005271382.1:n.1251+27C>G | |
| XM_005271326.4:c.1017+27C>G | XP_005271383.1:n.1017+27C>G | |
| XM_005271327.4:c.834+27C>G | XP_005271384.1:n.834+27C>G | |
| NM_001172309.2:c.1059+27C>G | NP_001165780.1:n.1059+27C>G | |
| NM_144573.4:c.1251+27C>G MANE Select | NP_653174.3:n.1251+27C>G |