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:
164294
ClinVar RCV Id:
RCV000151243
RCV000223815
RCV000461192
RCV000584808
RCV000619582
RCV000772181
RCV001808414
dbSNP Id:
rs727503246
gnomAD v3:
14-23418313-C-T
gnomAD v4:
14-23418313-C-T
COSMIC:
COSM144473
PubMed:
PMID:15358028
PMID:15856146
PMID:16335287
PMID:19808356
PMID:19913502
PMID:20800588
PMID:22857948
PMID:23074333
PMID:23283745
PMID:23396983
PMID:23782526
PMID:24047955
PMID:25351510
PMID:26688388
PMID:27247418
PMID:27532257
PMID:29300372
ERepo:
CA014400/MONDO:0005045/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418313C>T , CM000676.2:g.23418313C>T | GRCh38 |
| NC_000014.8:g.23887522C>T , CM000676.1:g.23887522C>T | GRCh37 |
| NC_000014.7:g.22957362C>T | NCBI36 |
| NG_007884.1:g.22349G>A , LRG_384:g.22349G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.4066G>A MANE Select | ENSP00000347507.3:p.Glu1356Lys | |
| ENST00000355349.3:c.4066G>A | ENSP00000347507.3:p.Glu1356Lys | |
| NM_000257.3:c.4066G>A | NP_000248.2:p.Glu1356Lys | |
| XM_017021340.1:c.4066G>A | XP_016876829.1:p.Glu1356Lys | |
| NM_000257.4:c.4066G>A MANE Select | NP_000248.2:p.Glu1356Lys |