Linked Data
ClinVar Variation Id:
6815
ClinVar RCV Id:
RCV000007217
dbSNP Id:
rs121918357
PubMed:
PMID:17646629
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553932G>C , CM000678.2:g.89553932G>C | GRCh38 |
| NC_000016.9:g.89620340G>C , CM000678.1:g.89620340G>C | GRCh37 |
| NC_000016.8:g.88147841G>C | NCBI36 |
| NG_008082.1:g.50536G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268704.7:c.2054G>C | ENSP00000268704.3:p.Ser685Thr | |
| ENST00000561702.6:n.2747G>C | ||
| ENST00000566682.2:c.1116G>C | ENSP00000461979.2:n.1116G>C | |
| ENST00000569720.2:n.758G>C | ||
| ENST00000569820.6:c.2348G>C | ||
| ENST00000642226.1:n.2138G>C | ||
| ENST00000642334.1:c.3493G>C | ||
| ENST00000642814.1:n.1490G>C | ||
| ENST00000642984.1:n.1798G>C | ||
| ENST00000643105.1:c.2781G>C | ||
| ENST00000643350.1:n.1489G>C | ||
| ENST00000643409.1:n.2500G>C | ||
| ENST00000643496.1:n.1892G>C | ||
| ENST00000643649.1:c.1964G>C | ENSP00000494806.1:p.Ser655Thr | |
| ENST00000643668.1:c.*2369G>C | ENSP00000494903.1:n.*2369G>C | |
| ENST00000643724.1:c.*1123G>C | ENSP00000496335.1:n.*1123G>C | |
| ENST00000643954.1:c.2974G>C | ||
| ENST00000644171.1:n.2835G>C | ||
| ENST00000644210.1:c.*647G>C | ENSP00000495675.1:n.*647G>C | |
| ENST00000644225.1:n.2092G>C | ||
| ENST00000644281.1:n.2759G>C | ||
| ENST00000644464.1:n.728G>C | ||
| ENST00000644498.1:c.*1894G>C | ENSP00000496244.1:n.*1894G>C | |
| ENST00000644671.1:c.1732G>C | ||
| ENST00000644751.1:c.1263G>C | ||
| ENST00000644781.1:c.2030G>C | ENSP00000495473.1:p.Ser677Thr | |
| ENST00000644901.1:c.*2469G>C | ENSP00000493797.1:n.*2469G>C | |
| ENST00000645042.1:c.*849G>C | ENSP00000493908.1:n.*849G>C | |
| ENST00000645063.1:c.2075G>C | ENSP00000493590.1:p.Ser692Thr | |
| ENST00000645354.1:c.2835G>C | ||
| ENST00000645392.1:n.2416G>C | ||
| ENST00000645742.1:n.709G>C | ||
| ENST00000645818.2:c.2075G>C MANE Select | ENSP00000495795.2:p.Ser692Thr | |
| ENST00000645842.1:n.1920G>C | ||
| ENST00000645886.1:c.1580G>C | ||
| ENST00000645897.1:c.1613G>C | ENSP00000495293.1:p.Ser538Thr | |
| ENST00000645952.1:n.1940G>C | ||
| ENST00000645977.1:n.3193G>C | ||
| ENST00000646005.1:n.1833G>C | ||
| ENST00000646263.1:c.*948G>C | ENSP00000494119.1:n.*948G>C | |
| ENST00000646303.1:c.1943G>C | ENSP00000494160.1:p.Ser648Thr | |
| ENST00000646399.1:c.2969G>C | ||
| ENST00000646445.1:c.933G>C | ||
| ENST00000646531.1:c.*698G>C | ENSP00000495185.1:n.*698G>C | |
| ENST00000646589.1:c.*1203G>C | ENSP00000494739.1:n.*1203G>C | |
| ENST00000646716.1:c.1127G>C | ENSP00000495593.1:p.Ser376Thr | |
| ENST00000646826.1:c.*748G>C | ENSP00000495123.1:n.*748G>C | |
| ENST00000646930.1:c.*2004G>C | ENSP00000495219.1:n.*2004G>C | |
| ENST00000647032.1:c.1690G>C | ||
| ENST00000647079.1:c.1667G>C | ENSP00000495967.1:p.Ser556Thr | |
| ENST00000647123.1:n.2032G>C | ||
| ENST00000647227.1:c.1713G>C | ||
| ENST00000647302.1:n.2725G>C | ||
| ENST00000647476.1:n.962G>C | ||
| ENST00000647491.1:n.1819G>C | ||
| ENST00000268704.6:c.2075G>C | ENSP00000268704.2:p.Ser692Thr | |
| ENST00000561702.5:n.1060G>C | ||
| ENST00000561911.5:c.675G>C | ENSP00000457387.1:n.675G>C | |
| ENST00000566682.1:c.211G>C | ||
| ENST00000569720.1:n.266G>C | ||
| ENST00000569820.5:c.1317G>C | ||
| ENST00000620811.4:c.*121G>C | ENSP00000478030.1:n.*121G>C | |
| NM_003119.3:c.2075G>C | NP_003110.1:p.Ser692Thr | |
| XM_006721264.2:c.2075G>C | XP_006721327.1:p.Ser692Thr | |
| NM_001363850.1:c.2075G>C | NP_001350779.1:p.Ser692Thr | |
| XM_006721264.4:c.2075G>C | XP_006721327.1:p.Ser692Thr | |
| XR_001751971.2:n.2424G>C | ||
| XR_001751972.2:n.3711G>C | ||
| NM_003119.4:c.2075G>C MANE Select | NP_003110.1:p.Ser692Thr |