Linked Data
ClinVar Variation Id:
144049
ClinVar RCV Id:
RCV000133554
dbSNP Id:
rs587777656
PubMed:
PMID:23763483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30736616C>T , CM000678.2:g.30736616C>T | GRCh38 |
| NC_000016.9:g.30747937C>T , CM000678.1:g.30747937C>T | GRCh37 |
| NC_000016.8:g.30655438C>T | NCBI36 |
| NG_032135.1:g.42476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.7000C>T | ENSP00000405186.3:p.Gln2334Ter | |
| ENST00000704023.1:c.1280C>T | ||
| ENST00000706321.1:c.7000C>T | ENSP00000516346.1:p.Gln2334Ter | |
| ENST00000262518.9:c.7000C>T MANE Select | ENSP00000262518.4:p.Gln2334Ter | |
| ENST00000262518.8:c.7000C>T | ENSP00000262518.4:p.Gln2334Ter | |
| ENST00000380361.7:c.6469C>T | ENSP00000369719.3:p.Gln2157Ter | |
| ENST00000395059.6:c.6223C>T | ENSP00000378499.3:p.Gln2075Ter | |
| NM_006662.2:c.7000C>T | NP_006653.2:p.Gln2334Ter | |
| NM_006662.3:c.7000C>T MANE Select | NP_006653.2:p.Gln2334Ter |