Linked Data
ClinVar Variation Id:
1123114
ClinVar RCV Id:
RCV001454023
dbSNP Id:
rs926550445
gnomAD v4:
19-55154036-G-C
MyVariant Identifiers:
chr19:g.55665404G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154036G>C , CM000681.2:g.55154036G>C | GRCh38 |
| NC_000019.9:g.55665404G>C , CM000681.1:g.55665404G>C | GRCh37 |
| NC_000019.8:g.60357216G>C | NCBI36 |
| NG_007866.2:g.8697C>G , LRG_432:g.8697C>G | |
| NG_011829.2:g.203C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.543C>G MANE Select | ENSP00000341838.5:p.Thr181= | |
| ENST00000665070.1:c.576C>G | ENSP00000499482.1:p.Thr192= | |
| ENST00000344887.9:c.543C>G | ENSP00000341838.5:p.Thr181= | |
| ENST00000585806.5:n.542C>G | ||
| ENST00000588882.1:c.468C>G | ENSP00000466729.1:p.Thr156= | |
| ENST00000589864.1:n.371C>G | ||
| NM_000363.4:c.543C>G , LRG_432t1:c.543C>G | NP_000354.4:p.Thr181= | |
| NM_000363.5:c.543C>G MANE Select | NP_000354.4:p.Thr181= |