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:
14975
ClinVar RCV Id:
RCV000016115
dbSNP Id:
rs35654328
PubMed:
PMID:2442122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254650C>T , CM000673.2:g.5254650C>T | GRCh38 |
| NC_000011.9:g.5275880C>T , CM000673.1:g.5275880C>T | GRCh37 |
| NC_000011.8:g.5232456C>T | NCBI36 |
| NG_000007.3:g.42966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.79G>A MANE Select | ENSP00000338082.4:p.Glu27Lys | |
| ENST00000380252.6:c.-73-136G>A | ENSP00000369602.2:n.-73-136G>A | |
| ENST00000380259.7:c.1625G>A | ENSP00000369609.3:n.1625G>A | |
| ENST00000642908.1:c.79G>A | ENSP00000495346.1:p.Glu27Lys | |
| ENST00000647543.1:c.79G>A | ENSP00000496470.1:p.Glu27Lys | |
| ENST00000336906.4:c.79G>A | ENSP00000338082.4:p.Glu27Lys | |
| ENST00000380252.5:c.63-136G>A | ENSP00000369602.1:n.63-136G>A | |
| ENST00000380259.6:c.79G>A | ENSP00000369609.2:p.Glu27Lys | |
| ENST00000444587.1:c.54+25G>A | ENSP00000488218.1:n.54+25G>A | |
| ENST00000620888.4:c.79G>A | ENSP00000479637.1:p.Glu27Lys | |
| ENST00000624109.1:c.279C>T | ENSP00000485458.1:p.Phe93= | |
| NM_000184.2:c.79G>A | NP_000175.1:p.Glu27Lys | |
| NM_000184.3:c.79G>A MANE Select | NP_000175.1:p.Glu27Lys |