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:
2219
ClinVar RCV Id:
RCV002336073
dbSNP Id:
rs5030820
COSMIC:
COSM25673
CIViC:
CA020446
PCER:
P-CER:CA020446/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149822C>G , CM000665.2:g.10149822C>G | GRCh38 |
| NC_000003.11:g.10191506C>G , CM000665.1:g.10191506C>G | GRCh37 |
| NC_000003.10:g.10166506C>G | NCBI36 |
| NG_008212.3:g.13188C>G , LRG_322:g.13188C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*176C>G | ENSP00000512434.1:n.*176C>G | |
| ENST00000696143.1:c.635C>G | ENSP00000512435.1:n.635C>G | |
| ENST00000696153.1:c.610C>G | ENSP00000512444.1:p.Arg204Gly | |
| ENST00000256474.3:c.499C>G MANE Select | ENSP00000256474.3:p.Arg167Gly | |
| ENST00000256474.2:c.499C>G | ENSP00000256474.2:p.Arg167Gly | |
| ENST00000345392.2:c.376C>G | ENSP00000344757.2:p.Arg126Gly | |
| ENST00000477538.1:n.635C>G | ||
| NM_000551.3:c.499C>G , LRG_322t1:c.499C>G | NP_000542.1:p.Arg167Gly | |
| NM_198156.2:c.376C>G | NP_937799.1:p.Arg126Gly | |
| NM_001354723.1:c.*53C>G | NP_001341652.1:n.*53C>G | |
| NM_000551.4:c.499C>G MANE Select | NP_000542.1:p.Arg167Gly | |
| NM_001354723.2:c.*53C>G | NP_001341652.1:n.*53C>G | |
| NM_198156.3:c.376C>G | NP_937799.1:p.Arg126Gly |