Linked Data
ClinVar Variation Id:
1058464
ClinVar RCV Id:
RCV001367609
dbSNP Id:
rs1427361110
gnomAD v2:
19-4816702-G-A
gnomAD v4:
19-4816690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816690G>A , CM000681.2:g.4816690G>A | GRCh38 |
| NC_000019.9:g.4816702G>A , CM000681.1:g.4816702G>A | GRCh37 |
| NC_000019.8:g.4767702G>A | NCBI36 |
| NG_031998.1:g.20053C>T , LRG_358:g.20053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1688C>T MANE Select | ENSP00000248244.4:p.Ala563Val | |
| ENST00000248244.5:c.1688C>T | ENSP00000248244.4:p.Ala563Val | |
| ENST00000621756.1:c.1271C>T | ENSP00000479467.1:p.Ala424Val | |
| NM_182919.3:c.1688C>T , LRG_358t1:c.1688C>T | NP_891549.1:p.Ala563Val | |
| NM_001385678.1:c.1646C>T | NP_001372607.1:p.Ala549Val | |
| NM_001385679.1:c.1553C>T | NP_001372608.1:p.Ala518Val | |
| NM_001385680.1:c.1046C>T | NP_001372609.1:p.Ala349Val | |
| NM_182919.4:c.1688C>T MANE Select | NP_891549.1:p.Ala563Val |