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:
375981
ClinVar RCV Id:
RCV000426713
RCV000433235
RCV000433927
RCV000443916
RCV000444865
RCV000482718
RCV000824936
RCV000989347
RCV001250385
dbSNP Id:
rs1057519732
COSMIC:
COSM235614
CIViC:
CA16602456
ERepo:
CA16602456/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66436824C>T , CM000677.2:g.66436824C>T | GRCh38 |
| NC_000015.9:g.66729162C>T , CM000677.1:g.66729162C>T | GRCh37 |
| NC_000015.8:g.64516216C>T | NCBI36 |
| NG_008305.1:g.54952C>T , LRG_725:g.54952C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.304C>T | ENSP00000508681.1:p.Pro102Ser | |
| ENST00000685172.1:c.370C>T | ENSP00000509604.1:p.Pro124Ser | |
| ENST00000685763.1:c.291+1587C>T | ENSP00000509016.1:n.291+1587C>T | |
| ENST00000686347.1:c.370C>T | ENSP00000509027.1:p.Pro124Ser | |
| ENST00000687191.1:n.806C>T | ||
| ENST00000689951.1:c.370C>T | ENSP00000509308.1:p.Pro124Ser | |
| ENST00000691077.1:c.370C>T | ENSP00000509843.1:p.Pro124Ser | |
| ENST00000691576.1:c.370C>T | ENSP00000510066.1:p.Pro124Ser | |
| ENST00000691937.1:c.370C>T | ENSP00000508768.1:p.Pro124Ser | |
| ENST00000692487.1:c.370C>T | ENSP00000509534.1:p.Pro124Ser | |
| ENST00000692683.1:c.304C>T | ENSP00000508437.1:p.Pro102Ser | |
| ENST00000693150.1:c.304C>T | ENSP00000510309.1:p.Pro102Ser | |
| ENST00000307102.10:c.370C>T MANE Select | ENSP00000302486.5:p.Pro124Ser | |
| ENST00000307102.9:c.370C>T | ENSP00000302486.4:p.Pro124Ser | |
| ENST00000425818.2:n.881C>T | ||
| NM_002755.3:c.370C>T , LRG_725t1:c.370C>T | NP_002746.1:p.Pro124Ser | |
| XM_011521783.1:c.304C>T | XP_011520085.1:p.Pro102Ser | |
| XM_011521783.3:c.304C>T | XP_011520085.1:p.Pro102Ser | |
| XM_017022411.2:c.370C>T | XP_016877900.1:p.Pro124Ser | |
| XM_017022412.1:c.304C>T | XP_016877901.1:p.Pro102Ser | |
| NM_002755.4:c.370C>T MANE Select | NP_002746.1:p.Pro124Ser |