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:
1687723
ClinVar RCV Id:
RCV002251697
dbSNP Id:
rs1064794951
PCER:
P-CER:CA351756524/193300
CIViC:
CA351756524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149912G>A , CM000665.2:g.10149912G>A | GRCh38 |
| NC_000003.11:g.10191596G>A , CM000665.1:g.10191596G>A | GRCh37 |
| NC_000003.10:g.10166596G>A | NCBI36 |
| NG_008212.3:g.13278G>A , LRG_322:g.13278G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*266G>A | ENSP00000512434.1:n.*266G>A | |
| ENST00000696143.1:c.725G>A | ENSP00000512435.1:n.725G>A | |
| ENST00000696153.1:c.700G>A | ENSP00000512444.1:p.Asp234Asn | |
| ENST00000256474.3:c.589G>A MANE Select | ENSP00000256474.3:p.Asp197Asn | |
| ENST00000256474.2:c.589G>A | ENSP00000256474.2:p.Asp197Asn | |
| ENST00000345392.2:c.466G>A | ENSP00000344757.2:p.Asp156Asn | |
| ENST00000477538.1:n.725G>A | ||
| NM_000551.3:c.589G>A , LRG_322t1:c.589G>A | NP_000542.1:p.Asp197Asn | |
| NM_198156.2:c.466G>A | NP_937799.1:p.Asp156Asn | |
| NM_001354723.1:c.*143G>A | NP_001341652.1:n.*143G>A | |
| NM_000551.4:c.589G>A MANE Select | NP_000542.1:p.Asp197Asn | |
| NM_001354723.2:c.*143G>A | NP_001341652.1:n.*143G>A | |
| NM_198156.3:c.466G>A | NP_937799.1:p.Asp156Asn |