Linked Data
ClinVar Variation Id:
1055759
ClinVar RCV Id:
RCV001364485
dbSNP Id:
rs567288271
ExAC:
19:4816750 C / T
gnomAD v2:
19-4816750-C-T
gnomAD v3:
19-4816738-C-T
gnomAD v4:
19-4816738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816738C>T , CM000681.2:g.4816738C>T | GRCh38 |
| NC_000019.9:g.4816750C>T , CM000681.1:g.4816750C>T | GRCh37 |
| NC_000019.8:g.4767750C>T | NCBI36 |
| NG_031998.1:g.20005G>A , LRG_358:g.20005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1640G>A MANE Select | ENSP00000248244.4:p.Arg547Gln | |
| ENST00000248244.5:c.1640G>A | ENSP00000248244.4:p.Arg547Gln | |
| ENST00000621756.1:c.1223G>A | ENSP00000479467.1:p.Arg408Gln | |
| NM_182919.3:c.1640G>A , LRG_358t1:c.1640G>A | NP_891549.1:p.Arg547Gln | |
| NM_001385678.1:c.1598G>A | NP_001372607.1:p.Arg533Gln | |
| NM_001385679.1:c.1505G>A | NP_001372608.1:p.Arg502Gln | |
| NM_001385680.1:c.998G>A | NP_001372609.1:p.Arg333Gln | |
| NM_182919.4:c.1640G>A MANE Select | NP_891549.1:p.Arg547Gln |