Linked Data
ClinVar Variation Id:
40163
ClinVar RCV Id:
RCV000033178
dbSNP Id:
rs397514645
PubMed:
PMID:23246288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104770805T>G , CM000676.2:g.104770805T>G | GRCh38 |
| NC_000014.8:g.105237142T>G , CM000676.1:g.105237142T>G | GRCh37 |
| NC_000014.7:g.104308187T>G | NCBI36 |
| NG_012188.1:g.29940A>C , LRG_721:g.29940A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1204A>C | ENSP00000450681.3:p.Thr402Pro | |
| ENST00000554585.6:c.*129A>C | ENSP00000481526.2:n.*129A>C | |
| ENST00000555458.6:c.1303A>C | ENSP00000451470.3:p.Thr435Pro | |
| ENST00000553797.2:c.1378A>C | ENSP00000507566.1:p.Thr460Pro | |
| ENST00000554826.2:n.1772A>C | ||
| ENST00000610370.2:n.3289A>C | ||
| ENST00000683058.1:n.1180A>C | ||
| ENST00000683722.1:c.1303A>C | ENSP00000507879.1:p.Thr435Pro | |
| ENST00000684058.1:n.860A>C | ||
| ENST00000407796.7:c.1303A>C | ENSP00000384293.2:p.Thr435Pro | |
| ENST00000649815.2:c.1303A>C MANE Select | ENSP00000497822.1:p.Thr435Pro | |
| ENST00000349310.7:c.1303A>C | ENSP00000270202.4:p.Thr435Pro | |
| ENST00000402615.6:c.1303A>C | ENSP00000385326.2:p.Thr435Pro | |
| ENST00000407796.6:c.1303A>C | ENSP00000384293.2:p.Thr435Pro | |
| ENST00000544168.5:n.1238A>C | ||
| ENST00000553506.5:n.1701A>C | ||
| ENST00000554192.5:c.413A>C | ||
| ENST00000554581.5:c.1303A>C | ENSP00000451828.1:p.Thr435Pro | |
| ENST00000554585.5:c.570A>C | ENSP00000481526.1:n.570A>C | |
| ENST00000554848.5:c.1303A>C | ENSP00000451166.1:p.Thr435Pro | |
| ENST00000555458.5:c.410A>C | ||
| ENST00000555528.5:c.1303A>C | ENSP00000450688.1:p.Thr435Pro | |
| ENST00000557552.1:n.7267A>C | ||
| ENST00000610370.1:n.1734A>C | ||
| NM_001014431.1:c.1303A>C | NP_001014431.1:p.Thr435Pro | |
| NM_001014432.1:c.1303A>C , LRG_721t1:c.1303A>C | NP_001014432.1:p.Thr435Pro | |
| NM_005163.2:c.1303A>C , LRG_721t2:c.1303A>C | NP_005154.2:p.Thr435Pro | |
| XM_005267401.1:c.1303A>C | XP_005267458.1:p.Thr435Pro | |
| XM_011536543.1:c.1303A>C | XP_011534845.1:p.Thr435Pro | |
| XR_002957536.1:n.3020A>C | ||
| NM_001014431.2:c.1303A>C | NP_001014431.1:p.Thr435Pro | |
| NM_001014432.2:c.1303A>C | NP_001014432.1:p.Thr435Pro | |
| NM_001382430.1:c.1303A>C MANE Select | NP_001369359.1:p.Thr435Pro | |
| NM_001382431.1:c.1303A>C | NP_001369360.1:p.Thr435Pro | |
| NM_001382432.1:c.1303A>C | NP_001369361.1:p.Thr435Pro | |
| NM_001382433.1:c.1303A>C | NP_001369362.1:p.Thr435Pro |