Linked Data
ClinVar Variation Id:
2045551
ClinVar RCV Id:
RCV002908721
dbSNP Id:
rs2093586082
gnomAD v4:
19-4816704-A-G
MyVariant Identifiers:
chr19:g.4816716A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816704A>G , CM000681.2:g.4816704A>G | GRCh38 |
| NC_000019.9:g.4816716A>G , CM000681.1:g.4816716A>G | GRCh37 |
| NC_000019.8:g.4767716A>G | NCBI36 |
| NG_031998.1:g.20039T>C , LRG_358:g.20039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1674T>C MANE Select | ENSP00000248244.4:p.Gly558= | |
| ENST00000248244.5:c.1674T>C | ENSP00000248244.4:p.Gly558= | |
| ENST00000621756.1:c.1257T>C | ENSP00000479467.1:p.Gly419= | |
| NM_182919.3:c.1674T>C , LRG_358t1:c.1674T>C | NP_891549.1:p.Gly558= | |
| NM_001385678.1:c.1632T>C | NP_001372607.1:p.Gly544= | |
| NM_001385679.1:c.1539T>C | NP_001372608.1:p.Gly513= | |
| NM_001385680.1:c.1032T>C | NP_001372609.1:p.Gly344= | |
| NM_182919.4:c.1674T>C MANE Select | NP_891549.1:p.Gly558= |