Linked Data
ClinVar Variation Id:
2263754
ClinVar RCV Id:
RCV002798144
dbSNP Id:
rs753538779
ExAC:
16:89620904 T / G
gnomAD v2:
16-89620904-T-G
gnomAD v4:
16-89554496-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89554496T>G , CM000678.2:g.89554496T>G | GRCh38 |
| NC_000016.9:g.89620904T>G , CM000678.1:g.89620904T>G | GRCh37 |
| NC_000016.8:g.88148405T>G | NCBI36 |
| NG_008082.1:g.51100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2093T>G | ENSP00000268704.3:p.Leu698Arg | |
| ENST00000561702.6:n.2786T>G | ||
| ENST00000565891.2:c.11T>G | ENSP00000495004.1:p.Leu4Arg | |
| ENST00000566682.2:c.1155T>G | ENSP00000461979.2:n.1155T>G | |
| ENST00000569720.2:n.797T>G | ||
| ENST00000569820.6:c.2387T>G | ||
| ENST00000642226.1:n.2177T>G | ||
| ENST00000642334.1:c.3532T>G | ||
| ENST00000642814.1:n.1529T>G | ||
| ENST00000642984.1:n.1837T>G | ||
| ENST00000643105.1:c.2820T>G | ||
| ENST00000643350.1:n.1528T>G | ||
| ENST00000643409.1:n.2539T>G | ||
| ENST00000643496.1:n.1931T>G | ||
| ENST00000643649.1:c.2003T>G | ENSP00000494806.1:p.Leu668Arg | |
| ENST00000643668.1:c.*2408T>G | ENSP00000494903.1:n.*2408T>G | |
| ENST00000643724.1:c.*1162T>G | ENSP00000496335.1:n.*1162T>G | |
| ENST00000643954.1:c.3013T>G | ||
| ENST00000644171.1:n.2874T>G | ||
| ENST00000644210.1:c.*686T>G | ENSP00000495675.1:n.*686T>G | |
| ENST00000644225.1:n.2131T>G | ||
| ENST00000644281.1:n.2798T>G | ||
| ENST00000644464.1:n.767T>G | ||
| ENST00000644498.1:c.*1933T>G | ENSP00000496244.1:n.*1933T>G | |
| ENST00000644671.1:c.1771T>G | ||
| ENST00000644751.1:c.1302T>G | ||
| ENST00000644781.1:c.2069T>G | ENSP00000495473.1:p.Leu690Arg | |
| ENST00000644901.1:c.*2508T>G | ENSP00000493797.1:n.*2508T>G | |
| ENST00000645042.1:c.*888T>G | ENSP00000493908.1:n.*888T>G | |
| ENST00000645063.1:c.2114T>G | ENSP00000493590.1:p.Leu705Arg | |
| ENST00000645354.1:c.2874T>G | ||
| ENST00000645392.1:n.2455T>G | ||
| ENST00000645742.1:n.748T>G | ||
| ENST00000645818.2:c.2114T>G MANE Select | ENSP00000495795.2:p.Leu705Arg | |
| ENST00000645842.1:n.1959T>G | ||
| ENST00000645886.1:c.1619T>G | ||
| ENST00000645897.1:c.1652T>G | ENSP00000495293.1:p.Leu551Arg | |
| ENST00000645952.1:n.1979T>G | ||
| ENST00000645977.1:n.3232T>G | ||
| ENST00000646005.1:n.1872T>G | ||
| ENST00000646263.1:c.*987T>G | ENSP00000494119.1:n.*987T>G | |
| ENST00000646303.1:c.1982T>G | ENSP00000494160.1:p.Leu661Arg | |
| ENST00000646399.1:c.3008T>G | ||
| ENST00000646445.1:c.972T>G | ||
| ENST00000646531.1:c.*737T>G | ENSP00000495185.1:n.*737T>G | |
| ENST00000646589.1:c.*1242T>G | ENSP00000494739.1:n.*1242T>G | |
| ENST00000646716.1:c.1166T>G | ENSP00000495593.1:p.Leu389Arg | |
| ENST00000646826.1:c.*787T>G | ENSP00000495123.1:n.*787T>G | |
| ENST00000646930.1:c.*2043T>G | ENSP00000495219.1:n.*2043T>G | |
| ENST00000647032.1:c.1745T>G | ||
| ENST00000647079.1:c.1706T>G | ENSP00000495967.1:p.Leu569Arg | |
| ENST00000647123.1:n.2071T>G | ||
| ENST00000647227.1:c.1752T>G | ||
| ENST00000647302.1:n.2764T>G | ||
| ENST00000647476.1:n.1001T>G | ||
| ENST00000647491.1:n.1858T>G | ||
| ENST00000268704.6:c.2114T>G | ENSP00000268704.2:p.Leu705Arg | |
| ENST00000561702.5:n.1099T>G | ||
| ENST00000561911.5:c.714T>G | ENSP00000457387.1:n.714T>G | |
| ENST00000566682.1:c.250T>G | ||
| ENST00000569720.1:n.305T>G | ||
| ENST00000569820.5:c.1356T>G | ||
| ENST00000620811.4:c.*160T>G | ENSP00000478030.1:n.*160T>G | |
| NM_003119.3:c.2114T>G | NP_003110.1:p.Leu705Arg | |
| XM_006721264.2:c.2114T>G | XP_006721327.1:p.Leu705Arg | |
| NM_001363850.1:c.2114T>G | NP_001350779.1:p.Leu705Arg | |
| XM_006721264.4:c.2114T>G | XP_006721327.1:p.Leu705Arg | |
| XR_001751971.2:n.2463T>G | ||
| XR_001751972.2:n.3750T>G | ||
| NM_003119.4:c.2114T>G MANE Select | NP_003110.1:p.Leu705Arg |