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:
15714
ClinVar RCV Id:
RCV000017008
dbSNP Id:
rs36030576
gnomAD v4:
16-176724-T-G
PubMed:
PMID:6526652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176724T>G , CM000678.2:g.176724T>G | GRCh38 |
| NC_000016.9:g.226723T>G , CM000678.1:g.226723T>G | GRCh37 |
| NC_000016.8:g.166723T>G | NCBI36 |
| NG_000006.1:g.37587T>G | |
| NG_059186.1:g.5074T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.8T>G MANE Select | ENSP00000322421.5:p.Leu3Arg | |
| ENST00000397797.1:c.-40T>G | ENSP00000380899.1:n.-40T>G | |
| ENST00000472694.1:n.27T>G | ||
| NM_000558.4:c.8T>G | NP_000549.1:p.Leu3Arg | |
| NM_000558.5:c.8T>G MANE Select | NP_000549.1:p.Leu3Arg |