Linked Data
ClinVar Variation Id:
354954
ClinVar RCV Id:
RCV000294002
dbSNP Id:
rs7662
gnomAD v2:
6-108364106-A-G
gnomAD v3:
6-108042902-A-G
gnomAD v4:
6-108042902-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108042902A>G , CM000668.2:g.108042902A>G | GRCh38 |
| NC_000006.11:g.108364106A>G , CM000668.1:g.108364106A>G | GRCh37 |
| NC_000006.10:g.108470799A>G | NCBI36 |
| NG_007262.1:g.36836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467960.2:c.*2598T>C | ENSP00000514449.1:n.*2598T>C | |
| ENST00000477774.2:n.2242T>C | ||
| ENST00000492130.2:c.*1883T>C | ENSP00000514453.1:n.*1883T>C | |
| ENST00000699569.1:c.*1883T>C | ENSP00000514443.1:n.*1883T>C | |
| ENST00000699570.1:n.3342T>C | ||
| ENST00000699571.1:n.2604T>C | ||
| ENST00000699572.1:c.*2115T>C | ENSP00000514444.1:n.*2115T>C | |
| ENST00000699573.1:c.*1883T>C | ENSP00000514445.1:n.*1883T>C | |
| ENST00000699574.1:c.*2732T>C | ENSP00000514446.1:n.*2732T>C | |
| ENST00000699575.1:c.*2596T>C | ENSP00000514447.1:n.*2596T>C | |
| ENST00000699576.1:c.*2589T>C | ENSP00000514448.1:n.*2589T>C | |
| ENST00000699577.1:c.*1883T>C | ENSP00000514450.1:n.*1883T>C | |
| ENST00000699578.1:c.*2115T>C | ENSP00000514451.1:n.*2115T>C | |
| ENST00000699579.1:c.*2046T>C | ENSP00000514452.1:n.*2046T>C | |
| ENST00000699580.1:c.*1883T>C | ENSP00000514454.1:n.*1883T>C | |
| ENST00000699581.1:c.*1883T>C | ENSP00000514455.1:n.*1883T>C | |
| ENST00000193322.8:c.*1883T>C MANE Select | ENSP00000193322.3:n.*1883T>C | |
| ENST00000193322.7:c.*1883T>C | ENSP00000193322.3:n.*1883T>C | |
| ENST00000492130.1:n.1337T>C | ||
| NM_014028.3:c.*1883T>C | NP_054747.2:n.*1883T>C | |
| XM_011535775.1:c.*1883T>C | XP_011534077.1:n.*1883T>C | |
| XM_011535776.1:c.*1883T>C | XP_011534078.1:n.*1883T>C | |
| XR_942410.3:n.3022T>C | ||
| NM_014028.4:c.*1883T>C MANE Select | NP_054747.2:n.*1883T>C |