Linked Data
ClinVar Variation Id:
220101
dbSNP Id:
rs769602042
ExAC:
16:89620213 G / A
gnomAD v2:
16-89620213-G-A
gnomAD v3:
16-89553805-G-A
gnomAD v4:
16-89553805-G-A
COSMIC:
COSM4729588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553805G>A , CM000678.2:g.89553805G>A | GRCh38 |
| NC_000016.9:g.89620213G>A , CM000678.1:g.89620213G>A | GRCh37 |
| NC_000016.8:g.88147714G>A | NCBI36 |
| NG_008082.1:g.50409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1927G>A | ENSP00000268704.3:p.Asp643Asn | |
| ENST00000561702.6:n.2620G>A | ||
| ENST00000566682.2:c.989G>A | ENSP00000461979.2:p.Arg330Gln | |
| ENST00000569720.2:n.631G>A | ||
| ENST00000569820.6:c.2221G>A | ||
| ENST00000642226.1:n.2011G>A | ||
| ENST00000642334.1:c.3366G>A | ||
| ENST00000642814.1:n.1363G>A | ||
| ENST00000642984.1:n.1671G>A | ||
| ENST00000643105.1:c.2654G>A | ||
| ENST00000643350.1:n.1362G>A | ||
| ENST00000643409.1:n.2373G>A | ||
| ENST00000643496.1:n.1765G>A | ||
| ENST00000643649.1:c.1837G>A | ENSP00000494806.1:p.Asp613Asn | |
| ENST00000643668.1:c.*2242G>A | ENSP00000494903.1:n.*2242G>A | |
| ENST00000643724.1:c.*996G>A | ENSP00000496335.1:n.*996G>A | |
| ENST00000643954.1:c.2847G>A | ||
| ENST00000644171.1:n.2708G>A | ||
| ENST00000644210.1:c.*520G>A | ENSP00000495675.1:n.*520G>A | |
| ENST00000644225.1:n.1965G>A | ||
| ENST00000644281.1:n.2632G>A | ||
| ENST00000644464.1:n.601G>A | ||
| ENST00000644498.1:c.*1767G>A | ENSP00000496244.1:n.*1767G>A | |
| ENST00000644671.1:c.1605G>A | ||
| ENST00000644751.1:c.1136G>A | ||
| ENST00000644781.1:c.1903G>A | ENSP00000495473.1:p.Asp635Asn | |
| ENST00000644901.1:c.*2342G>A | ENSP00000493797.1:n.*2342G>A | |
| ENST00000645042.1:c.*722G>A | ENSP00000493908.1:n.*722G>A | |
| ENST00000645063.1:c.1948G>A | ENSP00000493590.1:p.Asp650Asn | |
| ENST00000645354.1:c.2708G>A | ||
| ENST00000645392.1:n.2289G>A | ||
| ENST00000645742.1:n.582G>A | ||
| ENST00000645818.2:c.1948G>A MANE Select | ENSP00000495795.2:p.Asp650Asn | |
| ENST00000645842.1:n.1793G>A | ||
| ENST00000645886.1:c.1453G>A | ||
| ENST00000645897.1:c.1486G>A | ENSP00000495293.1:p.Asp496Asn | |
| ENST00000645952.1:n.1813G>A | ||
| ENST00000645977.1:n.3066G>A | ||
| ENST00000646005.1:n.1706G>A | ||
| ENST00000646263.1:c.*821G>A | ENSP00000494119.1:n.*821G>A | |
| ENST00000646303.1:c.1816G>A | ENSP00000494160.1:p.Asp606Asn | |
| ENST00000646399.1:c.2842G>A | ||
| ENST00000646445.1:c.806G>A | ||
| ENST00000646531.1:c.*571G>A | ENSP00000495185.1:n.*571G>A | |
| ENST00000646589.1:c.*1076G>A | ENSP00000494739.1:n.*1076G>A | |
| ENST00000646716.1:c.1000G>A | ENSP00000495593.1:p.Asp334Asn | |
| ENST00000646826.1:c.*621G>A | ENSP00000495123.1:n.*621G>A | |
| ENST00000646930.1:c.*1877G>A | ENSP00000495219.1:n.*1877G>A | |
| ENST00000647032.1:c.1563G>A | ||
| ENST00000647079.1:c.1540G>A | ENSP00000495967.1:p.Asp514Asn | |
| ENST00000647123.1:n.1905G>A | ||
| ENST00000647227.1:c.1586G>A | ||
| ENST00000647302.1:n.2598G>A | ||
| ENST00000647476.1:n.835G>A | ||
| ENST00000647491.1:n.1692G>A | ||
| ENST00000268704.6:c.1948G>A | ENSP00000268704.2:p.Asp650Asn | |
| ENST00000561702.5:n.933G>A | ||
| ENST00000561911.5:c.548G>A | ENSP00000457387.1:p.Arg183Gln | |
| ENST00000566682.1:c.84G>A | ||
| ENST00000569720.1:n.139G>A | ||
| ENST00000569820.5:c.1190G>A | ||
| ENST00000620811.4:c.711G>A | ENSP00000478030.1:p.Thr237= | |
| NM_003119.3:c.1948G>A | NP_003110.1:p.Asp650Asn | |
| XM_006721264.2:c.1948G>A | XP_006721327.1:p.Asp650Asn | |
| NM_001363850.1:c.1948G>A | NP_001350779.1:p.Asp650Asn | |
| XM_006721264.4:c.1948G>A | XP_006721327.1:p.Asp650Asn | |
| XR_001751971.2:n.2297G>A | ||
| XR_001751972.2:n.3584G>A | ||
| NM_003119.4:c.1948G>A MANE Select | NP_003110.1:p.Asp650Asn |