Linked Data
dbSNP Id:
rs775305856
ExAC:
1:154437654 C / G
gnomAD v2:
1-154437654-C-G
gnomAD v4:
1-154465178-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465178C>G , CM000663.2:g.154465178C>G | GRCh38 |
| NC_000001.10:g.154437654C>G , CM000663.1:g.154437654C>G | GRCh37 |
| NC_000001.9:g.152704278C>G | NCBI36 |
| NG_012087.1:g.64986C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1205C>G MANE Select | ENSP00000357470.3:p.Thr402Arg | |
| ENST00000344086.8:c.*13C>G | ENSP00000340589.4:n.*13C>G | |
| ENST00000368485.7:c.1205C>G | ENSP00000357470.3:p.Thr402Arg | |
| ENST00000502679.1:n.518C>G | ||
| ENST00000507256.1:n.403C>G | ||
| NM_000565.3:c.1205C>G | NP_000556.1:p.Thr402Arg | |
| NM_181359.2:c.*13C>G | NP_852004.1:n.*13C>G | |
| XM_005245139.1:c.969C>G | XP_005245196.1:p.Asp323Glu | |
| XM_005245140.1:c.*46C>G | XP_005245197.1:n.*46C>G | |
| XM_006711298.1:c.1253C>G | XP_006711361.1:p.Thr418Arg | |
| XM_006711299.2:c.*13C>G | XP_006711362.1:n.*13C>G | |
| XM_005245139.2:c.969C>G | XP_005245196.1:p.Asp323Glu | |
| XM_005245140.3:c.*46C>G | XP_005245197.1:n.*46C>G | |
| XM_006711298.2:c.1253C>G | XP_006711361.1:p.Thr418Arg | |
| XM_006711299.4:c.*13C>G | XP_006711362.1:n.*13C>G | |
| XM_017001199.2:c.1352C>G | XP_016856688.1:p.Thr451Arg | |
| XM_017001200.2:c.1304C>G | XP_016856689.1:p.Thr435Arg | |
| XM_017001201.2:c.*46C>G | XP_016856690.1:n.*46C>G | |
| NM_000565.4:c.1205C>G MANE Select | NP_000556.1:p.Thr402Arg | |
| NM_181359.3:c.*13C>G | NP_852004.1:n.*13C>G | |
| NM_001382769.1:c.1304C>G | NP_001369698.1:p.Thr435Arg | |
| NM_001382770.1:c.1298C>G | NP_001369699.1:p.Thr433Arg | |
| NM_001382771.1:c.1253C>G | NP_001369700.1:p.Thr418Arg | |
| NM_001382772.1:c.1199C>G | NP_001369701.1:p.Thr400Arg | |
| NM_001382773.1:c.*13C>G | NP_001369702.1:n.*13C>G | |
| NM_001382774.1:c.845C>G | NP_001369703.1:p.Thr282Arg |