Linked Data
ClinVar Variation Id:
161766
ClinVar RCV Id:
RCV000149302
dbSNP Id:
rs193920901
COSMIC:
COSM1180033
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153763296T>C , CM000663.2:g.153763296T>C | GRCh38 |
| NC_000001.10:g.153735772T>C , CM000663.1:g.153735772T>C | GRCh37 |
| NC_000001.9:g.152002396T>C | NCBI36 |
| NG_050682.1:g.40247T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318967.7:c.1700T>C MANE Select | ENSP00000318641.2:p.Ile567Thr | |
| ENST00000318967.6:c.1700T>C | ENSP00000318641.2:p.Ile567Thr | |
| ENST00000435409.6:c.1700T>C | ENSP00000404290.2:p.Ile567Thr | |
| ENST00000476843.5:c.1166T>C | ENSP00000485263.1:n.1166T>C | |
| ENST00000481797.5:n.3503T>C | ||
| ENST00000503133.5:c.418T>C | ||
| ENST00000512605.4:c.1082T>C | ENSP00000425437.1:p.Ile361Thr | |
| NM_023015.3:c.1700T>C | NP_075391.3:p.Ile567Thr | |
| XM_005245459.2:c.1700T>C | XP_005245516.1:p.Ile567Thr | |
| XM_005245461.2:c.239T>C | XP_005245518.1:p.Ile80Thr | |
| XM_006711490.2:c.1535T>C | XP_006711553.1:p.Ile512Thr | |
| XM_006711491.2:c.239T>C | XP_006711554.1:p.Ile80Thr | |
| XM_011509906.1:c.1535T>C | XP_011508208.1:p.Ile512Thr | |
| XM_011509907.1:c.1700T>C | XP_011508209.1:p.Ile567Thr | |
| NM_001324475.1:c.1700T>C | NP_001311404.1:p.Ile567Thr | |
| NM_023015.4:c.1700T>C | NP_075391.3:p.Ile567Thr | |
| NM_023015.5:c.1700T>C MANE Select | NP_075391.3:p.Ile567Thr | |
| NM_001324475.2:c.1700T>C | NP_001311404.1:p.Ile567Thr |