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:
144033
ClinVar RCV Id:
RCV000133540
dbSNP Id:
rs587777651
PubMed:
PMID:20077426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432347T>C , CM000685.2:g.53432347T>C | GRCh38 |
| NC_000023.10:g.53459295T>C , CM000685.1:g.53459295T>C | GRCh37 |
| NC_000023.9:g.53476020T>C | NCBI36 |
| NG_008153.1:g.7029A>G , LRG_450:g.7029A>G | |
| NG_033076.2:g.14493T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495986.2:n.401A>G | ||
| ENST00000682365.1:n.1592A>G | ||
| ENST00000684251.1:n.101A>G | ||
| ENST00000684503.1:n.422A>G | ||
| ENST00000684692.1:c.257A>G | ENSP00000506792.1:p.Asp86Gly | |
| ENST00000168216.11:c.257A>G MANE Select | ENSP00000168216.6:p.Asp86Gly | |
| ENST00000168216.10:c.257A>G | ENSP00000168216.6:p.Asp86Gly | |
| ENST00000375298.4:c.257A>G | ENSP00000364447.4:p.Asp86Gly | |
| ENST00000375304.9:c.257A>G | ENSP00000364453.5:p.Asp86Gly | |
| ENST00000495986.1:n.389A>G | ||
| NM_001037811.2:c.257A>G , LRG_450t2:c.257A>G | NP_001032900.1:p.Asp86Gly | |
| NM_004493.2:c.257A>G , LRG_450t1:c.257A>G | NP_004484.1:p.Asp86Gly | |
| NM_004493.3:c.257A>G MANE Select | NP_004484.1:p.Asp86Gly |