Linked Data
dbSNP Id:
rs771888758
ExAC:
1:78399190 T / G
gnomAD v2:
1-78399190-T-G
gnomAD v4:
1-77933505-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77933505T>G , CM000663.2:g.77933505T>G | GRCh38 |
| NC_000001.10:g.78399190T>G , CM000663.1:g.78399190T>G | GRCh37 |
| NC_000001.9:g.78171778T>G | NCBI36 |
| NG_016625.1:g.49991T>G , LRG_442:g.49991T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1251+26T>G MANE Select | ENSP00000333938.7:n.1251+26T>G | |
| ENST00000330010.12:c.1059+26T>G | ENSP00000327363.8:n.1059+26T>G | |
| ENST00000334785.11:c.1251+26T>G | ENSP00000333938.7:n.1251+26T>G | |
| ENST00000342754.5:c.950+26T>G | ||
| ENST00000440324.5:c.1209+26T>G | ENSP00000411902.1:n.1209+26T>G | |
| ENST00000464998.1:n.711+26T>G | ||
| ENST00000480732.2:n.825+26T>G | ||
| NM_001172309.1:c.1059+26T>G | NP_001165780.1:n.1059+26T>G | |
| NM_144573.3:c.1251+26T>G , LRG_442t1:c.1251+26T>G | NP_653174.3:n.1251+26T>G | |
| XM_005271322.2:c.1251+26T>G | XP_005271379.1:n.1251+26T>G | |
| XM_005271323.2:c.1209+26T>G | XP_005271380.1:n.1209+26T>G | |
| XM_005271324.3:c.1059+26T>G | XP_005271381.1:n.1059+26T>G | |
| XM_005271325.2:c.1251+26T>G | XP_005271382.1:n.1251+26T>G | |
| XM_005271326.2:c.1017+26T>G | XP_005271383.1:n.1017+26T>G | |
| XM_005271327.2:c.834+26T>G | XP_005271384.1:n.834+26T>G | |
| XM_005271322.4:c.1251+26T>G | XP_005271379.1:n.1251+26T>G | |
| XM_005271323.4:c.1209+26T>G | XP_005271380.1:n.1209+26T>G | |
| XM_005271324.5:c.1059+26T>G | XP_005271381.1:n.1059+26T>G | |
| XM_005271325.4:c.1251+26T>G | XP_005271382.1:n.1251+26T>G | |
| XM_005271326.4:c.1017+26T>G | XP_005271383.1:n.1017+26T>G | |
| XM_005271327.4:c.834+26T>G | XP_005271384.1:n.834+26T>G | |
| NM_001172309.2:c.1059+26T>G | NP_001165780.1:n.1059+26T>G | |
| NM_144573.4:c.1251+26T>G MANE Select | NP_653174.3:n.1251+26T>G |