Linked Data
ClinVar Variation Id:
2099581
dbSNP Id:
rs11541798
gnomAD v3:
18-31598665-C-A
gnomAD v4:
18-31598665-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598665C>A , CM000680.2:g.31598665C>A | GRCh38 |
| NC_000018.9:g.29178628C>A , CM000680.1:g.29178628C>A | GRCh37 |
| NC_000018.8:g.27432626C>A | NCBI36 |
| NG_009490.1:g.11899C>A , LRG_416:g.11899C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.434C>A MANE Select | ENSP00000237014.4:p.Pro145His | |
| ENST00000610404.5:c.338C>A | ENSP00000477599.2:p.Pro113His | |
| ENST00000649620.1:c.434C>A | ENSP00000497927.1:p.Pro145His | |
| ENST00000237014.7:c.434C>A | ENSP00000237014.3:p.Pro145His | |
| ENST00000610404.4:c.548C>A | ENSP00000477599.1:p.Pro183His | |
| ENST00000613781.1:c.410C>A | ENSP00000479174.1:p.Pro137His | |
| NM_000371.3:c.434C>A , LRG_416t1:c.434C>A | NP_000362.1:p.Pro145His | |
| NM_000371.4:c.434C>A MANE Select | NP_000362.1:p.Pro145His |