UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
157609
ClinVar RCV Id:
RCV000144942
dbSNP Id:
rs606231285
gnomAD v3:
13-37000810-C-T
gnomAD v4:
13-37000810-C-T
PubMed:
PMID:24989451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.37000810C>T , CM000675.2:g.37000810C>T | GRCh38 |
| NC_000013.10:g.37574947C>T , CM000675.1:g.37574947C>T | GRCh37 |
| NC_000013.9:g.36472947C>T | NCBI36 |
| NG_042275.1:g.5270C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000464235.6:n.29C>T | ||
| ENST00000470423.2:n.45C>T | ||
| ENST00000488108.6:n.31C>T | ||
| ENST00000488779.6:n.23C>T | ||
| ENST00000684866.1:n.33C>T | ||
| ENST00000685563.1:n.23C>T | ||
| ENST00000685624.1:c.-2121C>T | ENSP00000510384.1:n.-2121C>T | |
| ENST00000685643.1:n.23C>T | ||
| ENST00000686472.1:n.25C>T | ||
| ENST00000686701.1:n.33C>T | ||
| ENST00000686729.1:c.5C>T | ENSP00000509000.1:p.Ala2Val | |
| ENST00000687482.1:c.-1689C>T | ENSP00000510481.1:n.-1689C>T | |
| ENST00000687944.1:c.-1599C>T | ENSP00000509727.1:n.-1599C>T | |
| ENST00000688064.1:c.-1608C>T | ENSP00000510279.1:n.-1608C>T | |
| ENST00000688436.1:c.-1572C>T | ENSP00000508444.1:n.-1572C>T | |
| ENST00000689744.1:c.5C>T | ENSP00000510687.1:p.Ala2Val | |
| ENST00000689948.1:c.-2116C>T | ENSP00000509508.1:n.-2116C>T | |
| ENST00000690673.1:n.23C>T | ||
| ENST00000690774.1:c.5C>T | ENSP00000508609.1:p.Ala2Val | |
| ENST00000692143.1:c.-1650C>T | ENSP00000510649.1:n.-1650C>T | |
| ENST00000692477.1:n.25C>T | ||
| ENST00000692761.1:c.5C>T | ENSP00000510440.1:p.Ala2Val | |
| ENST00000692787.1:c.5C>T | ENSP00000509588.1:p.Ala2Val | |
| ENST00000693100.1:c.-1674C>T | ENSP00000509449.1:n.-1674C>T | |
| ENST00000693733.1:n.23C>T | ||
| ENST00000389704.4:c.5C>T MANE Select | ENSP00000374354.3:p.Ala2Val | |
| ENST00000239893.9:c.5C>T | ENSP00000239893.5:p.Ala2Val | |
| ENST00000389704.3:c.5C>T | ENSP00000374354.3:p.Ala2Val | |
| ENST00000474661.5:n.25C>T | ||
| ENST00000489088.5:n.380-1463C>T | ||
| ENST00000490537.6:n.24C>T | ||
| NM_181503.2:c.5C>T | NP_852480.1:p.Ala2Val | |
| XM_006719763.1:c.153C>T | XP_006719826.1:p.Gly51= | |
| XR_429212.1:n.438C>T | ||
| XR_941480.1:n.438C>T | ||
| XR_429212.2:n.438C>T | ||
| NM_181503.3:c.5C>T MANE Select | NP_852480.1:p.Ala2Val |