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:
56107
ClinVar RCV Id:
RCV000049516
dbSNP Id:
rs386833590
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6605130C>A , CM000671.2:g.6605130C>A | GRCh38 |
| NC_000009.11:g.6605130C>A , CM000671.1:g.6605130C>A | GRCh37 |
| NC_000009.10:g.6595130C>A | NCBI36 |
| NG_016397.1:g.45563G>T , LRG_643:g.45563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.861+1G>T MANE Select | ENSP00000370737.4:n.861+1G>T | |
| ENST00000638654.1:c.108+1G>T | ENSP00000491101.1:n.108+1G>T | |
| ENST00000639364.1:n.561+1G>T | ||
| ENST00000639443.1:n.429+1G>T | ||
| ENST00000639954.1:n.569+1G>T | ||
| ENST00000640592.1:n.744+1G>T | ||
| ENST00000321612.6:c.861+1G>T | ENSP00000370737.3:n.861+1G>T | |
| ENST00000463305.1:n.142+1G>T | ||
| NM_000170.2:c.861+1G>T , LRG_643t1:c.861+1G>T | NP_000161.2:n.861+1G>T | |
| NM_000170.3:c.861+1G>T MANE Select | NP_000161.2:n.861+1G>T |