Linked Data
ClinVar Variation Id:
354931
ClinVar RCV Id:
RCV000284353
dbSNP Id:
rs534652017
gnomAD v3:
6-108041927-T-C
gnomAD v4:
6-108041927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108041927T>C , CM000668.2:g.108041927T>C | GRCh38 |
| NC_000006.11:g.108363131T>C , CM000668.1:g.108363131T>C | GRCh37 |
| NC_000006.10:g.108469824T>C | NCBI36 |
| NG_007262.1:g.37811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467960.2:c.*3573A>G | ENSP00000514449.1:n.*3573A>G | |
| ENST00000477774.2:n.3217A>G | ||
| ENST00000492130.2:c.*2556A>G | ENSP00000514453.1:n.*2556A>G | |
| ENST00000699569.1:c.*2218+640A>G | ENSP00000514443.1:n.*2218+640A>G | |
| ENST00000699570.1:n.4317A>G | ||
| ENST00000699571.1:n.3579A>G | ||
| ENST00000699572.1:c.*3090A>G | ENSP00000514444.1:n.*3090A>G | |
| ENST00000699573.1:c.*2858A>G | ENSP00000514445.1:n.*2858A>G | |
| ENST00000699574.1:c.*3707A>G | ENSP00000514446.1:n.*3707A>G | |
| ENST00000699575.1:c.*3571A>G | ENSP00000514447.1:n.*3571A>G | |
| ENST00000699576.1:c.*3564A>G | ENSP00000514448.1:n.*3564A>G | |
| ENST00000699577.1:c.*2858A>G | ENSP00000514450.1:n.*2858A>G | |
| ENST00000699578.1:c.*3090A>G | ENSP00000514451.1:n.*3090A>G | |
| ENST00000699579.1:c.*3021A>G | ENSP00000514452.1:n.*3021A>G | |
| ENST00000699580.1:c.*2858A>G | ENSP00000514454.1:n.*2858A>G | |
| ENST00000699581.1:c.*2858A>G | ENSP00000514455.1:n.*2858A>G | |
| ENST00000193322.8:c.*2858A>G MANE Select | ENSP00000193322.3:n.*2858A>G | |
| ENST00000193322.7:c.*2858A>G | ENSP00000193322.3:n.*2858A>G | |
| ENST00000492130.1:n.2010A>G | ||
| NM_014028.3:c.*2858A>G | NP_054747.2:n.*2858A>G | |
| NM_014028.4:c.*2858A>G MANE Select | NP_054747.2:n.*2858A>G |