Linked Data
ClinVar Variation Id:
13444
dbSNP Id:
rs121918083
gnomAD v2:
18-29172877-T-C
gnomAD v3:
18-31592914-T-C
gnomAD v4:
18-31592914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592914T>C , CM000680.2:g.31592914T>C | GRCh38 |
| NC_000018.9:g.29172877T>C , CM000680.1:g.29172877T>C | GRCh37 |
| NC_000018.8:g.27426875T>C | NCBI36 |
| NG_009490.1:g.6148T>C , LRG_416:g.6148T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.88T>C MANE Select | ENSP00000237014.4:p.Cys30Arg | |
| ENST00000610404.5:c.-9T>C | ENSP00000477599.2:n.-9T>C | |
| ENST00000649620.1:c.88T>C | ENSP00000497927.1:p.Cys30Arg | |
| ENST00000237014.7:c.88T>C | ENSP00000237014.3:p.Cys30Arg | |
| ENST00000432547.7:n.114T>C | ||
| ENST00000541025.2:n.114T>C | ||
| ENST00000610404.4:c.88T>C | ENSP00000477599.1:p.Cys30Arg | |
| ENST00000613781.1:c.88T>C | ENSP00000479174.1:p.Cys30Arg | |
| NM_000371.3:c.88T>C , LRG_416t1:c.88T>C | NP_000362.1:p.Cys30Arg | |
| NM_000371.4:c.88T>C MANE Select | NP_000362.1:p.Cys30Arg |