WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
2223420
ClinVar RCV Id:
RCV002678531
dbSNP Id:
rs370762118
ExAC:
19:49206736 C / T
gnomAD v2:
19-49206736-C-T
gnomAD v3:
19-48703479-C-T
gnomAD v4:
19-48703479-C-T
COSMIC:
COSM1241193
MyVariant Identifiers:
chr19:g.49206736C>T (hg19)
chr19:g.49206736_49206737delinsTG (hg19)
chr19:g.48703479C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703479C>T , CM000681.2:g.48703479C>T | GRCh38 |
| NC_000019.9:g.49206736C>T , CM000681.1:g.49206736C>T | GRCh37 |
| NC_000019.8:g.53898548C>T | NCBI36 |
| NG_007511.1:g.12509C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425340.3:c.523C>T MANE Select | ENSP00000387498.2:p.Arg175Trp | |
| ENST00000522966.2:c.523C>T | ENSP00000430227.2:p.Arg175Trp | |
| ENST00000391876.5:c.523C>T | ENSP00000375748.4:p.Arg175Trp | |
| ENST00000425340.2:c.523C>T | ENSP00000387498.2:p.Arg175Trp | |
| ENST00000522966.1:c.523C>T | ENSP00000430227.1:p.Arg175Trp | |
| NM_000511.5:c.523C>T | NP_000502.4:p.Arg175Trp | |
| NM_001097638.2:c.523C>T | NP_001091107.1:p.Arg175Trp | |
| NR_131188.1:n.370G>A | ||
| NM_000511.6:c.523C>T MANE Select | NP_000502.4:p.Arg175Trp | |
| NM_001097638.3:c.523C>T | NP_001091107.1:p.Arg175Trp |