Linked Data
ClinVar Variation Id:
465174
ClinVar RCV Id:
RCV000554743
dbSNP Id:
rs568556987
ExAC:
16:89620200 A / G
gnomAD v2:
16-89620200-A-G
gnomAD v3:
16-89553792-A-G
gnomAD v4:
16-89553792-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553792A>G , CM000678.2:g.89553792A>G | GRCh38 |
| NC_000016.9:g.89620200A>G , CM000678.1:g.89620200A>G | GRCh37 |
| NC_000016.8:g.88147701A>G | NCBI36 |
| NG_008082.1:g.50396A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1916-2A>G | ENSP00000268704.3:n.1916-2A>G | |
| ENST00000561702.6:n.2609-2A>G | ||
| ENST00000566682.2:c.978-2A>G | ENSP00000461979.2:n.978-2A>G | |
| ENST00000569720.2:n.620-2A>G | ||
| ENST00000569820.6:c.2210-2A>G | ||
| ENST00000642226.1:n.2000-2A>G | ||
| ENST00000642334.1:c.3355-2A>G | ||
| ENST00000642814.1:n.1352-2A>G | ||
| ENST00000642984.1:n.1660-2A>G | ||
| ENST00000643105.1:c.2643-2A>G | ||
| ENST00000643350.1:n.1351-2A>G | ||
| ENST00000643409.1:n.2362-2A>G | ||
| ENST00000643496.1:n.1754-2A>G | ||
| ENST00000643649.1:c.1826-2A>G | ENSP00000494806.1:n.1826-2A>G | |
| ENST00000643668.1:c.*2231-2A>G | ENSP00000494903.1:n.*2231-2A>G | |
| ENST00000643724.1:c.*985-2A>G | ENSP00000496335.1:n.*985-2A>G | |
| ENST00000643954.1:c.2836-2A>G | ||
| ENST00000644171.1:n.2697-2A>G | ||
| ENST00000644210.1:c.*509-2A>G | ENSP00000495675.1:n.*509-2A>G | |
| ENST00000644225.1:n.1954-2A>G | ||
| ENST00000644281.1:n.2619A>G | ||
| ENST00000644464.1:n.590-2A>G | ||
| ENST00000644498.1:c.*1756-2A>G | ENSP00000496244.1:n.*1756-2A>G | |
| ENST00000644671.1:c.1594-2A>G | ||
| ENST00000644751.1:c.1125-2A>G | ||
| ENST00000644781.1:c.1892-2A>G | ENSP00000495473.1:n.1892-2A>G | |
| ENST00000644901.1:c.*2331-2A>G | ENSP00000493797.1:n.*2331-2A>G | |
| ENST00000645042.1:c.*711-2A>G | ENSP00000493908.1:n.*711-2A>G | |
| ENST00000645063.1:c.1937-2A>G | ENSP00000493590.1:n.1937-2A>G | |
| ENST00000645354.1:c.2697-2A>G | ||
| ENST00000645392.1:n.2278-2A>G | ||
| ENST00000645742.1:n.571-2A>G | ||
| ENST00000645818.2:c.1937-2A>G MANE Select | ENSP00000495795.2:n.1937-2A>G | |
| ENST00000645842.1:n.1782-2A>G | ||
| ENST00000645886.1:c.1442-2A>G | ||
| ENST00000645897.1:c.1475-2A>G | ENSP00000495293.1:n.1475-2A>G | |
| ENST00000645952.1:n.1802-2A>G | ||
| ENST00000645977.1:n.3055-2A>G | ||
| ENST00000646005.1:n.1695-2A>G | ||
| ENST00000646263.1:c.*810-2A>G | ENSP00000494119.1:n.*810-2A>G | |
| ENST00000646303.1:c.1805-2A>G | ENSP00000494160.1:n.1805-2A>G | |
| ENST00000646399.1:c.2831-2A>G | ||
| ENST00000646445.1:c.795-2A>G | ||
| ENST00000646531.1:c.*560-2A>G | ENSP00000495185.1:n.*560-2A>G | |
| ENST00000646589.1:c.*1065-2A>G | ENSP00000494739.1:n.*1065-2A>G | |
| ENST00000646716.1:c.989-2A>G | ENSP00000495593.1:n.989-2A>G | |
| ENST00000646826.1:c.*610-2A>G | ENSP00000495123.1:n.*610-2A>G | |
| ENST00000646930.1:c.*1866-2A>G | ENSP00000495219.1:n.*1866-2A>G | |
| ENST00000647032.1:c.1552-2A>G | ||
| ENST00000647079.1:c.1529-2A>G | ENSP00000495967.1:n.1529-2A>G | |
| ENST00000647123.1:n.1894-2A>G | ||
| ENST00000647227.1:c.1575-2A>G | ||
| ENST00000647302.1:n.2587-2A>G | ||
| ENST00000647476.1:n.824-2A>G | ||
| ENST00000647491.1:n.1681-2A>G | ||
| ENST00000268704.6:c.1937-2A>G | ENSP00000268704.2:n.1937-2A>G | |
| ENST00000561702.5:n.922-2A>G | ||
| ENST00000561911.5:c.535A>G | ENSP00000457387.1:p.Arg179Gly | |
| ENST00000566682.1:c.73-2A>G | ||
| ENST00000569720.1:n.126A>G | ||
| ENST00000569820.5:c.1179-2A>G | ||
| ENST00000620811.4:c.700-2A>G | ENSP00000478030.1:n.700-2A>G | |
| NM_003119.3:c.1937-2A>G | NP_003110.1:n.1937-2A>G | |
| XM_006721264.2:c.1937-2A>G | XP_006721327.1:n.1937-2A>G | |
| NM_001363850.1:c.1937-2A>G | NP_001350779.1:n.1937-2A>G | |
| XM_006721264.4:c.1937-2A>G | XP_006721327.1:n.1937-2A>G | |
| XR_001751971.2:n.2286-2A>G | ||
| XR_001751972.2:n.3573-2A>G | ||
| NM_003119.4:c.1937-2A>G MANE Select | NP_003110.1:n.1937-2A>G |