Linked Data
dbSNP Id:
rs798766
gnomAD v2:
4-1734239-T-C
gnomAD v3:
4-1732512-T-C
gnomAD v4:
4-1732512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1732512T>C , CM000666.2:g.1732512T>C | GRCh38 |
| NC_000004.11:g.1734239T>C , CM000666.1:g.1734239T>C | GRCh37 |
| NC_000004.10:g.1704037T>C | NCBI36 |
| NG_064424.1:g.16023T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313288.9:c.1591+1211T>C MANE Select | ENSP00000326550.4:n.1591+1211T>C | |
| ENST00000470136.2:c.520+1281T>C | ||
| ENST00000612220.5:c.511+1211T>C | ENSP00000478580.2:n.511+1211T>C | |
| ENST00000650779.1:n.1389+1211T>C | ||
| ENST00000651251.1:n.1705+1211T>C | ||
| ENST00000651472.1:c.1591+1211T>C | ENSP00000498361.1:n.1591+1211T>C | |
| ENST00000651817.1:c.581+1211T>C | ||
| ENST00000652770.1:c.1591+1211T>C | ENSP00000498219.1:n.1591+1211T>C | |
| ENST00000313288.8:c.1591+1211T>C | ENSP00000326550.4:n.1591+1211T>C | |
| ENST00000466077.1:n.290+1211T>C | ||
| ENST00000470136.1:c.520+1281T>C | ||
| ENST00000484651.5:n.1717+1211T>C | ||
| ENST00000485989.6:c.511+1211T>C | ENSP00000419210.2:n.511+1211T>C | |
| ENST00000612220.4:c.*74+1211T>C | ENSP00000478580.1:n.*74+1211T>C | |
| ENST00000617535.4:c.*74+1211T>C | ENSP00000483196.1:n.*74+1211T>C | |
| NM_006342.2:c.1591+1211T>C | NP_006333.1:n.1591+1211T>C | |
| XM_005247929.1:c.1591+1211T>C | XP_005247986.1:n.1591+1211T>C | |
| XM_005247930.1:c.511+1211T>C | XP_005247987.1:n.511+1211T>C | |
| XM_011513386.1:c.1591+1211T>C | XP_011511688.1:n.1591+1211T>C | |
| XM_011513387.1:c.1591+1211T>C | XP_011511689.1:n.1591+1211T>C | |
| XM_005247929.3:c.1591+1211T>C | XP_005247986.1:n.1591+1211T>C | |
| XM_005247930.3:c.511+1211T>C | XP_005247987.1:n.511+1211T>C | |
| XM_011513386.3:c.1591+1211T>C | XP_011511688.1:n.1591+1211T>C | |
| XM_017007653.1:c.1591+1211T>C | XP_016863142.1:n.1591+1211T>C | |
| NM_006342.3:c.1591+1211T>C MANE Select | NP_006333.1:n.1591+1211T>C |