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:
625260
ClinVar RCV Id:
RCV000767288
dbSNP Id:
rs5030822
CIViC:
CA70052370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149856T>A , CM000665.2:g.10149856T>A | GRCh38 |
| NC_000003.11:g.10191540T>A , CM000665.1:g.10191540T>A | GRCh37 |
| NC_000003.10:g.10166540T>A | NCBI36 |
| NG_008212.3:g.13222T>A , LRG_322:g.13222T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*210T>A | ENSP00000512434.1:n.*210T>A | |
| ENST00000696143.1:c.669T>A | ENSP00000512435.1:n.669T>A | |
| ENST00000696153.1:c.644T>A | ENSP00000512444.1:p.Leu215Gln | |
| ENST00000256474.3:c.533T>A MANE Select | ENSP00000256474.3:p.Leu178Gln | |
| ENST00000256474.2:c.533T>A | ENSP00000256474.2:p.Leu178Gln | |
| ENST00000345392.2:c.410T>A | ENSP00000344757.2:p.Leu137Gln | |
| ENST00000477538.1:n.669T>A | ||
| NM_000551.3:c.533T>A , LRG_322t1:c.533T>A | NP_000542.1:p.Leu178Gln | |
| NM_198156.2:c.410T>A | NP_937799.1:p.Leu137Gln | |
| NM_001354723.1:c.*87T>A | NP_001341652.1:n.*87T>A | |
| NM_000551.4:c.533T>A MANE Select | NP_000542.1:p.Leu178Gln | |
| NM_001354723.2:c.*87T>A | NP_001341652.1:n.*87T>A | |
| NM_198156.3:c.410T>A | NP_937799.1:p.Leu137Gln |