Linked Data
ClinVar Variation Id:
2649081
ClinVar RCV Id:
RCV003413540
MyVariant Identifiers:
chr19:g.4816533T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816521T>C , CM000681.2:g.4816521T>C | GRCh38 |
| NC_000019.9:g.4816533T>C , CM000681.1:g.4816533T>C | GRCh37 |
| NC_000019.8:g.4767533T>C | NCBI36 |
| NG_031998.1:g.20222A>G , LRG_358:g.20222A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1857A>G MANE Select | ENSP00000248244.4:p.Pro619= | |
| ENST00000248244.5:c.1857A>G | ENSP00000248244.4:p.Pro619= | |
| ENST00000621756.1:c.1440A>G | ENSP00000479467.1:p.Pro480= | |
| NM_182919.3:c.1857A>G , LRG_358t1:c.1857A>G | NP_891549.1:p.Pro619= | |
| NM_001385678.1:c.1815A>G | NP_001372607.1:p.Pro605= | |
| NM_001385679.1:c.1722A>G | NP_001372608.1:p.Pro574= | |
| NM_001385680.1:c.1215A>G | NP_001372609.1:p.Pro405= | |
| NM_182919.4:c.1857A>G MANE Select | NP_891549.1:p.Pro619= |