Linked Data
ClinVar Variation Id:
354947
ClinVar RCV Id:
RCV000379201
dbSNP Id:
rs112283202
gnomAD v2:
6-108363706-A-G
gnomAD v3:
6-108042502-A-G
gnomAD v4:
6-108042502-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108042502A>G , CM000668.2:g.108042502A>G | GRCh38 |
| NC_000006.11:g.108363706A>G , CM000668.1:g.108363706A>G | GRCh37 |
| NC_000006.10:g.108470399A>G | NCBI36 |
| NG_007262.1:g.37236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467960.2:c.*2998T>C | ENSP00000514449.1:n.*2998T>C | |
| ENST00000477774.2:n.2642T>C | ||
| ENST00000492130.2:c.*2218+65T>C | ENSP00000514453.1:n.*2218+65T>C | |
| ENST00000699569.1:c.*2218+65T>C | ENSP00000514443.1:n.*2218+65T>C | |
| ENST00000699570.1:n.3742T>C | ||
| ENST00000699571.1:n.3004T>C | ||
| ENST00000699572.1:c.*2515T>C | ENSP00000514444.1:n.*2515T>C | |
| ENST00000699573.1:c.*2283T>C | ENSP00000514445.1:n.*2283T>C | |
| ENST00000699574.1:c.*3132T>C | ENSP00000514446.1:n.*3132T>C | |
| ENST00000699575.1:c.*2996T>C | ENSP00000514447.1:n.*2996T>C | |
| ENST00000699576.1:c.*2989T>C | ENSP00000514448.1:n.*2989T>C | |
| ENST00000699577.1:c.*2283T>C | ENSP00000514450.1:n.*2283T>C | |
| ENST00000699578.1:c.*2515T>C | ENSP00000514451.1:n.*2515T>C | |
| ENST00000699579.1:c.*2446T>C | ENSP00000514452.1:n.*2446T>C | |
| ENST00000699580.1:c.*2283T>C | ENSP00000514454.1:n.*2283T>C | |
| ENST00000699581.1:c.*2283T>C | ENSP00000514455.1:n.*2283T>C | |
| ENST00000193322.8:c.*2283T>C MANE Select | ENSP00000193322.3:n.*2283T>C | |
| ENST00000193322.7:c.*2283T>C | ENSP00000193322.3:n.*2283T>C | |
| ENST00000492130.1:n.1672+65T>C | ||
| NM_014028.3:c.*2283T>C | NP_054747.2:n.*2283T>C | |
| NM_014028.4:c.*2283T>C MANE Select | NP_054747.2:n.*2283T>C |