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:
223208
dbSNP Id:
rs869025650
COSMIC:
COSM25682
PCER:
P-CER:CA357109/193300
CIViC:
CA357109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146603G>T , CM000665.2:g.10146603G>T | GRCh38 |
| NC_000003.11:g.10188287G>T , CM000665.1:g.10188287G>T | GRCh37 |
| NC_000003.10:g.10163287G>T | NCBI36 |
| NG_008212.3:g.9969G>T , LRG_322:g.9969G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*107G>T | ENSP00000512434.1:n.*107G>T | |
| ENST00000696143.1:c.600-3184G>T | ENSP00000512435.1:n.600-3184G>T | |
| ENST00000696153.1:c.430G>T | ENSP00000512444.1:p.Gly144Ter | |
| ENST00000256474.3:c.430G>T MANE Select | ENSP00000256474.3:p.Gly144Ter | |
| ENST00000256474.2:c.430G>T | ENSP00000256474.2:p.Gly144Ter | |
| ENST00000345392.2:c.341-3184G>T | ENSP00000344757.2:n.341-3184G>T | |
| ENST00000477538.1:n.566G>T | ||
| NM_000551.3:c.430G>T , LRG_322t1:c.430G>T | NP_000542.1:p.Gly144Ter | |
| NM_198156.2:c.341-3184G>T | NP_937799.1:n.341-3184G>T | |
| NM_001354723.1:c.*18-3184G>T | NP_001341652.1:n.*18-3184G>T | |
| NM_000551.4:c.430G>T MANE Select | NP_000542.1:p.Gly144Ter | |
| NM_001354723.2:c.*18-3184G>T | NP_001341652.1:n.*18-3184G>T | |
| NM_198156.3:c.341-3184G>T | NP_937799.1:n.341-3184G>T |