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:
2567872
ClinVar RCV Id:
RCV003283385
dbSNP Id:
rs1792099468
gnomAD v3:
7-117595026-C-T
gnomAD v4:
7-117595026-C-T
COSMIC:
COSM3257292
MyVariant Identifiers:
chr7:g.117235080C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117595026C>T , CM000669.2:g.117595026C>T | GRCh38 |
| NC_000007.13:g.117235080C>T , CM000669.1:g.117235080C>T | GRCh37 |
| NC_000007.12:g.117022316C>T | NCBI36 |
| NG_016465.4:g.134243C>T , LRG_663:g.134243C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2587C>T | ENSP00000497673.2:p.Leu863= | |
| ENST00000647978.2:c.*2301C>T | ENSP00000497658.1:n.*2301C>T | |
| ENST00000649781.2:c.2404C>T | ENSP00000497203.1:p.Leu802= | |
| ENST00000685018.2:c.2587C>T | ENSP00000510194.2:p.Leu863= | |
| ENST00000687278.2:c.2587C>T | ENSP00000509593.2:p.Leu863= | |
| ENST00000699585.1:c.2587C>T | ENSP00000514456.1:p.Leu863= | |
| ENST00000699598.1:c.2587C>T | ENSP00000514467.1:p.Leu863= | |
| ENST00000699599.1:c.2587C>T | ENSP00000514468.1:p.Leu863= | |
| ENST00000699600.1:c.2587C>T | ENSP00000514469.1:p.Leu863= | |
| ENST00000699601.1:c.*887C>T | ENSP00000514470.1:n.*887C>T | |
| ENST00000699602.1:c.2587C>T | ENSP00000514471.1:p.Leu863= | |
| ENST00000699604.1:c.*2411C>T | ENSP00000514472.1:n.*2411C>T | |
| ENST00000699605.1:c.2161C>T | ENSP00000514473.1:p.Leu721= | |
| ENST00000687278.1:c.178C>T | ENSP00000509593.1:p.Leu60= | |
| ENST00000003084.11:c.2587C>T MANE Select | ENSP00000003084.6:p.Leu863= | |
| ENST00000647720.1:c.237C>T | ||
| ENST00000648260.1:c.1402-7800C>T | ENSP00000497957.1:n.1402-7800C>T | |
| ENST00000649406.1:c.2404C>T | ENSP00000497965.1:p.Leu802= | |
| ENST00000649781.1:c.2404C>T | ENSP00000497203.1:p.Leu802= | |
| ENST00000003084.10:c.2587C>T | ENSP00000003084.6:p.Leu863= | |
| ENST00000426809.5:c.2497C>T | ENSP00000389119.1:p.Leu833= | |
| NM_000492.3:c.2587C>T , LRG_663t1:c.2587C>T | NP_000483.3:p.Leu863= | |
| XM_011515751.1:c.2677C>T | XP_011514053.1:p.Leu893= | |
| XM_011515752.1:c.2677C>T | XP_011514054.1:p.Leu893= | |
| XM_011515753.1:c.2344C>T | XP_011514055.1:p.Leu782= | |
| XM_011515754.1:c.2344C>T | XP_011514056.1:p.Leu782= | |
| NM_000492.4:c.2587C>T MANE Select | NP_000483.3:p.Leu863= |