Linked Data
ClinVar Variation Id:
219448
dbSNP Id:
rs864622094
gnomAD v2:
16-89620349-T-C
gnomAD v3:
16-89553941-T-C
gnomAD v4:
16-89553941-T-C
PubMed:
PMID:27123479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553941T>C , CM000678.2:g.89553941T>C | GRCh38 |
| NC_000016.9:g.89620349T>C , CM000678.1:g.89620349T>C | GRCh37 |
| NC_000016.8:g.88147850T>C | NCBI36 |
| NG_008082.1:g.50545T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2063T>C | ENSP00000268704.3:p.Leu688Pro | |
| ENST00000561702.6:n.2756T>C | ||
| ENST00000566682.2:c.1125T>C | ENSP00000461979.2:n.1125T>C | |
| ENST00000569720.2:n.767T>C | ||
| ENST00000569820.6:c.2357T>C | ||
| ENST00000642226.1:n.2147T>C | ||
| ENST00000642334.1:c.3502T>C | ||
| ENST00000642814.1:n.1499T>C | ||
| ENST00000642984.1:n.1807T>C | ||
| ENST00000643105.1:c.2790T>C | ||
| ENST00000643350.1:n.1498T>C | ||
| ENST00000643409.1:n.2509T>C | ||
| ENST00000643496.1:n.1901T>C | ||
| ENST00000643649.1:c.1973T>C | ENSP00000494806.1:p.Leu658Pro | |
| ENST00000643668.1:c.*2378T>C | ENSP00000494903.1:n.*2378T>C | |
| ENST00000643724.1:c.*1132T>C | ENSP00000496335.1:n.*1132T>C | |
| ENST00000643954.1:c.2983T>C | ||
| ENST00000644171.1:n.2844T>C | ||
| ENST00000644210.1:c.*656T>C | ENSP00000495675.1:n.*656T>C | |
| ENST00000644225.1:n.2101T>C | ||
| ENST00000644281.1:n.2768T>C | ||
| ENST00000644464.1:n.737T>C | ||
| ENST00000644498.1:c.*1903T>C | ENSP00000496244.1:n.*1903T>C | |
| ENST00000644671.1:c.1741T>C | ||
| ENST00000644751.1:c.1272T>C | ||
| ENST00000644781.1:c.2039T>C | ENSP00000495473.1:p.Leu680Pro | |
| ENST00000644901.1:c.*2478T>C | ENSP00000493797.1:n.*2478T>C | |
| ENST00000645042.1:c.*858T>C | ENSP00000493908.1:n.*858T>C | |
| ENST00000645063.1:c.2084T>C | ENSP00000493590.1:p.Leu695Pro | |
| ENST00000645354.1:c.2844T>C | ||
| ENST00000645392.1:n.2425T>C | ||
| ENST00000645742.1:n.718T>C | ||
| ENST00000645818.2:c.2084T>C MANE Select | ENSP00000495795.2:p.Leu695Pro | |
| ENST00000645842.1:n.1929T>C | ||
| ENST00000645886.1:c.1589T>C | ||
| ENST00000645897.1:c.1622T>C | ENSP00000495293.1:p.Leu541Pro | |
| ENST00000645952.1:n.1949T>C | ||
| ENST00000645977.1:n.3202T>C | ||
| ENST00000646005.1:n.1842T>C | ||
| ENST00000646263.1:c.*957T>C | ENSP00000494119.1:n.*957T>C | |
| ENST00000646303.1:c.1952T>C | ENSP00000494160.1:p.Leu651Pro | |
| ENST00000646399.1:c.2978T>C | ||
| ENST00000646445.1:c.942T>C | ||
| ENST00000646531.1:c.*707T>C | ENSP00000495185.1:n.*707T>C | |
| ENST00000646589.1:c.*1212T>C | ENSP00000494739.1:n.*1212T>C | |
| ENST00000646716.1:c.1136T>C | ENSP00000495593.1:p.Leu379Pro | |
| ENST00000646826.1:c.*757T>C | ENSP00000495123.1:n.*757T>C | |
| ENST00000646930.1:c.*2013T>C | ENSP00000495219.1:n.*2013T>C | |
| ENST00000647032.1:c.1699T>C | ||
| ENST00000647079.1:c.1676T>C | ENSP00000495967.1:p.Leu559Pro | |
| ENST00000647123.1:n.2041T>C | ||
| ENST00000647227.1:c.1722T>C | ||
| ENST00000647302.1:n.2734T>C | ||
| ENST00000647476.1:n.971T>C | ||
| ENST00000647491.1:n.1828T>C | ||
| ENST00000268704.6:c.2084T>C | ENSP00000268704.2:p.Leu695Pro | |
| ENST00000561702.5:n.1069T>C | ||
| ENST00000561911.5:c.684T>C | ENSP00000457387.1:n.684T>C | |
| ENST00000566682.1:c.220T>C | ||
| ENST00000569720.1:n.275T>C | ||
| ENST00000569820.5:c.1326T>C | ||
| ENST00000620811.4:c.*130T>C | ENSP00000478030.1:n.*130T>C | |
| NM_003119.3:c.2084T>C | NP_003110.1:p.Leu695Pro | |
| XM_006721264.2:c.2084T>C | XP_006721327.1:p.Leu695Pro | |
| NM_001363850.1:c.2084T>C | NP_001350779.1:p.Leu695Pro | |
| XM_006721264.4:c.2084T>C | XP_006721327.1:p.Leu695Pro | |
| XR_001751971.2:n.2433T>C | ||
| XR_001751972.2:n.3720T>C | ||
| NM_003119.4:c.2084T>C MANE Select | NP_003110.1:p.Leu695Pro |