Linked Data
ClinVar Variation Id:
215219
dbSNP Id:
rs140769107
ExAC:
16:89623388 G / A
gnomAD v2:
16-89623388-G-A
gnomAD v3:
16-89556980-G-A
gnomAD v4:
16-89556980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89556980G>A , CM000678.2:g.89556980G>A | GRCh38 |
| NC_000016.9:g.89623388G>A , CM000678.1:g.89623388G>A | GRCh37 |
| NC_000016.8:g.88150889G>A | NCBI36 |
| NG_008082.1:g.53584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2254G>A | ENSP00000268704.3:p.Ala752Thr | |
| ENST00000561702.6:n.2947G>A | ||
| ENST00000565891.2:c.299G>A | ENSP00000495004.1:n.299G>A | |
| ENST00000569720.2:n.958G>A | ||
| ENST00000569820.6:c.2548G>A | ||
| ENST00000642226.1:n.2338G>A | ||
| ENST00000642334.1:c.3693G>A | ||
| ENST00000642814.1:n.1690G>A | ||
| ENST00000642984.1:n.1998G>A | ||
| ENST00000643105.1:c.2981G>A | ||
| ENST00000643350.1:n.1689G>A | ||
| ENST00000643409.1:n.2700G>A | ||
| ENST00000643496.1:n.2092G>A | ||
| ENST00000643649.1:c.2164G>A | ENSP00000494806.1:p.Ala722Thr | |
| ENST00000643668.1:c.*2569G>A | ENSP00000494903.1:n.*2569G>A | |
| ENST00000643724.1:c.*1323G>A | ENSP00000496335.1:n.*1323G>A | |
| ENST00000643954.1:c.3174G>A | ||
| ENST00000644171.1:n.3035G>A | ||
| ENST00000644210.1:c.*847G>A | ENSP00000495675.1:n.*847G>A | |
| ENST00000644225.1:n.3814G>A | ||
| ENST00000644281.1:n.2959G>A | ||
| ENST00000644464.1:n.2450G>A | ||
| ENST00000644498.1:c.*2094G>A | ENSP00000496244.1:n.*2094G>A | |
| ENST00000644671.1:c.1932G>A | ||
| ENST00000644751.1:c.1463G>A | ||
| ENST00000644781.1:c.2230G>A | ENSP00000495473.1:p.Ala744Thr | |
| ENST00000644901.1:c.*2669G>A | ENSP00000493797.1:n.*2669G>A | |
| ENST00000645042.1:c.*1049G>A | ENSP00000493908.1:n.*1049G>A | |
| ENST00000645063.1:c.*53G>A | ENSP00000493590.1:n.*53G>A | |
| ENST00000645392.1:n.2616G>A | ||
| ENST00000645742.1:n.909G>A | ||
| ENST00000645818.2:c.2275G>A MANE Select | ENSP00000495795.2:p.Ala759Thr | |
| ENST00000645842.1:n.2120G>A | ||
| ENST00000645886.1:c.1780G>A | ||
| ENST00000645897.1:c.1813G>A | ENSP00000495293.1:p.Ala605Thr | |
| ENST00000645952.1:n.2305G>A | ||
| ENST00000645977.1:n.3393G>A | ||
| ENST00000646005.1:n.2033G>A | ||
| ENST00000646263.1:c.*1148G>A | ENSP00000494119.1:n.*1148G>A | |
| ENST00000646303.1:c.2143G>A | ENSP00000494160.1:p.Ala715Thr | |
| ENST00000646399.1:c.3169G>A | ||
| ENST00000646445.1:c.1133G>A | ||
| ENST00000646531.1:c.*898G>A | ENSP00000495185.1:n.*898G>A | |
| ENST00000646589.1:c.*1403G>A | ENSP00000494739.1:n.*1403G>A | |
| ENST00000646716.1:c.*53G>A | ENSP00000495593.1:n.*53G>A | |
| ENST00000646826.1:c.*948G>A | ENSP00000495123.1:n.*948G>A | |
| ENST00000646930.1:c.*2204G>A | ENSP00000495219.1:n.*2204G>A | |
| ENST00000647032.1:c.1906G>A | ||
| ENST00000647079.1:c.1867G>A | ENSP00000495967.1:p.Ala623Thr | |
| ENST00000647123.1:n.2232G>A | ||
| ENST00000647227.1:c.1913G>A | ||
| ENST00000647302.1:n.2925G>A | ||
| ENST00000647476.1:n.3485G>A | ||
| ENST00000647491.1:n.2019G>A | ||
| ENST00000268704.6:c.2275G>A | ENSP00000268704.2:p.Ala759Thr | |
| ENST00000561702.5:n.1260G>A | ||
| ENST00000561911.5:c.875G>A | ENSP00000457387.1:n.875G>A | |
| ENST00000565891.1:n.316G>A | ||
| ENST00000569720.1:n.466G>A | ||
| ENST00000569820.5:c.1517G>A | ||
| ENST00000620811.4:c.*321G>A | ENSP00000478030.1:n.*321G>A | |
| NM_003119.3:c.2275G>A | NP_003110.1:p.Ala759Thr | |
| XM_006721264.2:c.*53G>A | XP_006721327.1:n.*53G>A | |
| NM_001363850.1:c.*53G>A | NP_001350779.1:n.*53G>A | |
| XM_006721264.4:c.*53G>A | XP_006721327.1:n.*53G>A | |
| XR_001751971.2:n.2624G>A | ||
| XR_001751972.2:n.3911G>A | ||
| NM_003119.4:c.2275G>A MANE Select | NP_003110.1:p.Ala759Thr |