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:
3142
ClinVar RCV Id:
RCV000003291
RCV000003292
RCV000057628
RCV000182219
RCV000762837
RCV001824559
RCV001851606
RCV003591618
dbSNP Id:
rs17221854
ExAC:
11:2799220 C / T
gnomAD v2:
11-2799220-C-T
gnomAD v4:
11-2777990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777990C>T , CM000673.2:g.2777990C>T | GRCh38 |
| NC_000011.9:g.2799220C>T , CM000673.1:g.2799220C>T | GRCh37 |
| NC_000011.8:g.2755796C>T | NCBI36 |
| NG_008935.1:g.338000C>T , LRG_287:g.338000C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1390C>T | ENSP00000434560.2:p.Arg464Cys | |
| ENST00000646564.2:c.1207C>T | ENSP00000495806.2:p.Arg403Cys | |
| ENST00000155840.12:c.1747C>T MANE Select | ENSP00000155840.2:p.Arg583Cys | |
| ENST00000335475.6:c.1366C>T | ENSP00000334497.5:p.Arg456Cys | |
| ENST00000526095.2:c.151C>T | ENSP00000494939.1:p.Arg51Cys | |
| ENST00000646564.1:c.853C>T | ENSP00000495806.1:p.Arg285Cys | |
| ENST00000155840.9:c.1747C>T | ENSP00000155840.2:p.Arg583Cys | |
| ENST00000335475.5:c.1366C>T | ENSP00000334497.5:p.Arg456Cys | |
| ENST00000526095.1:n.254C>T | ||
| NM_000218.2:c.1747C>T , LRG_287t1:c.1747C>T | NP_000209.2:p.Arg583Cys | |
| NM_181798.1:c.1366C>T , LRG_287t2:c.1366C>T | NP_861463.1:p.Arg456Cys | |
| NM_000218.3:c.1747C>T MANE Select | NP_000209.2:p.Arg583Cys |