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:
625249
ClinVar RCV Id:
RCV000767273
dbSNP Id:
rs749704215
COSMIC:
COSM97150
PCER:
P-CER:CA351754219/193300
CIViC:
CA351754219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146606C>T , CM000665.2:g.10146606C>T | GRCh38 |
| NC_000003.11:g.10188290C>T , CM000665.1:g.10188290C>T | GRCh37 |
| NC_000003.10:g.10163290C>T | NCBI36 |
| NG_008212.3:g.9972C>T , LRG_322:g.9972C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*110C>T | ENSP00000512434.1:n.*110C>T | |
| ENST00000696143.1:c.600-3181C>T | ENSP00000512435.1:n.600-3181C>T | |
| ENST00000696153.1:c.433C>T | ENSP00000512444.1:p.Gln145Ter | |
| ENST00000256474.3:c.433C>T MANE Select | ENSP00000256474.3:p.Gln145Ter | |
| ENST00000256474.2:c.433C>T | ENSP00000256474.2:p.Gln145Ter | |
| ENST00000345392.2:c.341-3181C>T | ENSP00000344757.2:n.341-3181C>T | |
| ENST00000477538.1:n.569C>T | ||
| NM_000551.3:c.433C>T , LRG_322t1:c.433C>T | NP_000542.1:p.Gln145Ter | |
| NM_198156.2:c.341-3181C>T | NP_937799.1:n.341-3181C>T | |
| NM_001354723.1:c.*18-3181C>T | NP_001341652.1:n.*18-3181C>T | |
| NM_000551.4:c.433C>T MANE Select | NP_000542.1:p.Gln145Ter | |
| NM_001354723.2:c.*18-3181C>T | NP_001341652.1:n.*18-3181C>T | |
| NM_198156.3:c.341-3181C>T | NP_937799.1:n.341-3181C>T |