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:
1070179
ClinVar RCV Id:
RCV001382228
dbSNP Id:
rs5030805
COSMIC:
COSM30216
PCER:
P-CER:CA70046108/193300
CIViC:
CA70046108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142086G>A , CM000665.2:g.10142086G>A | GRCh38 |
| NC_000003.11:g.10183770G>A , CM000665.1:g.10183770G>A | GRCh37 |
| NC_000003.10:g.10158770G>A | NCBI36 |
| NG_008212.3:g.5452G>A , LRG_322:g.5452G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.239G>A | ENSP00000512434.1:p.Ser80Asn | |
| ENST00000696143.1:c.239G>A | ENSP00000512435.1:p.Ser80Asn | |
| ENST00000696153.1:c.239G>A | ENSP00000512444.1:p.Ser80Asn | |
| ENST00000256474.3:c.239G>A MANE Select | ENSP00000256474.3:p.Ser80Asn | |
| ENST00000256474.2:c.239G>A | ENSP00000256474.2:p.Ser80Asn | |
| ENST00000345392.2:c.239G>A | ENSP00000344757.2:p.Ser80Asn | |
| NM_000551.3:c.239G>A , LRG_322t1:c.239G>A | NP_000542.1:p.Ser80Asn | |
| NM_198156.2:c.239G>A | NP_937799.1:p.Ser80Asn | |
| XM_011534078.1:c.239G>A | XP_011532380.1:p.Ser80Asn | |
| NM_001354723.1:c.239G>A | NP_001341652.1:p.Ser80Asn | |
| NM_000551.4:c.239G>A MANE Select | NP_000542.1:p.Ser80Asn | |
| NM_001354723.2:c.239G>A | NP_001341652.1:p.Ser80Asn | |
| NM_198156.3:c.239G>A | NP_937799.1:p.Ser80Asn |