Linked Data
ClinVar Variation Id:
215211
dbSNP Id:
rs201543030
ExAC:
16:89598987 G / A
gnomAD v2:
16-89598987-G-A
gnomAD v3:
16-89532579-G-A
gnomAD v4:
16-89532579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89532579G>A , CM000678.2:g.89532579G>A | GRCh38 |
| NC_000016.9:g.89598987G>A , CM000678.1:g.89598987G>A | GRCh37 |
| NC_000016.8:g.88126488G>A | NCBI36 |
| NG_008082.1:g.29183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1246G>A | ENSP00000268704.3:p.Gly416Ser | |
| ENST00000561945.2:n.412G>A | ||
| ENST00000566682.2:c.280G>A | ENSP00000461979.2:p.Gly94Ser | |
| ENST00000567138.3:c.164G>A | ||
| ENST00000642263.1:n.18G>A | ||
| ENST00000642334.1:c.1140G>A | ||
| ENST00000642427.1:n.667G>A | ||
| ENST00000642436.1:n.389-8365G>A | ||
| ENST00000643105.1:c.1187G>A | ||
| ENST00000643307.1:c.1267G>A | ENSP00000495673.1:p.Gly423Ser | |
| ENST00000643345.1:c.*791G>A | ENSP00000493982.1:n.*791G>A | |
| ENST00000643370.1:c.441G>A | ENSP00000494895.1:p.Pro147= | |
| ENST00000643496.1:n.1084G>A | ||
| ENST00000643649.1:c.1267G>A | ENSP00000494806.1:p.Gly423Ser | |
| ENST00000643668.1:c.*1561G>A | ENSP00000494903.1:n.*1561G>A | |
| ENST00000643724.1:c.*497+1771G>A | ENSP00000496335.1:n.*497+1771G>A | |
| ENST00000643954.1:c.1005G>A | ||
| ENST00000644044.1:c.45G>A | ||
| ENST00000644171.1:n.1241G>A | ||
| ENST00000644210.1:c.1267G>A | ENSP00000495675.1:p.Gly423Ser | |
| ENST00000644225.1:n.1284G>A | ||
| ENST00000644498.1:c.1246G>A | ENSP00000496244.1:p.Gly416Ser | |
| ENST00000644671.1:c.924G>A | ||
| ENST00000644748.1:n.2698G>A | ||
| ENST00000644751.1:c.669G>A | ||
| ENST00000644781.1:c.1267G>A | ENSP00000495473.1:p.Gly423Ser | |
| ENST00000644901.1:c.*1220G>A | ENSP00000493797.1:n.*1220G>A | |
| ENST00000645042.1:c.1267G>A | ENSP00000493908.1:p.Gly423Ser | |
| ENST00000645063.1:c.1267G>A | ENSP00000493590.1:p.Gly423Ser | |
| ENST00000645258.1:c.198G>A | ||
| ENST00000645354.1:c.2027G>A | ||
| ENST00000645818.2:c.1267G>A MANE Select | ENSP00000495795.2:p.Gly423Ser | |
| ENST00000645886.1:c.494G>A | ||
| ENST00000645897.1:c.987+1771G>A | ENSP00000495293.1:n.987+1771G>A | |
| ENST00000645977.1:n.2385G>A | ||
| ENST00000646263.1:c.1267G>A | ENSP00000494119.1:p.Gly423Ser | |
| ENST00000646303.1:c.1135G>A | ENSP00000494160.1:p.Gly379Ser | |
| ENST00000646399.1:c.950G>A | ||
| ENST00000646445.1:c.183-12069G>A | ||
| ENST00000646454.1:n.710+1622G>A | ||
| ENST00000646531.1:c.1267G>A | ENSP00000495185.1:p.Gly423Ser | |
| ENST00000646589.1:c.*395G>A | ENSP00000494739.1:n.*395G>A | |
| ENST00000646716.1:c.377-12069G>A | ENSP00000495593.1:n.377-12069G>A | |
| ENST00000646826.1:c.1267G>A | ENSP00000495123.1:p.Gly423Ser | |
| ENST00000646930.1:c.1267G>A | ENSP00000495219.1:p.Gly423Ser | |
| ENST00000646958.1:n.2312G>A | ||
| ENST00000647032.1:c.882G>A | ||
| ENST00000647079.1:c.859G>A | ENSP00000495967.1:p.Gly287Ser | |
| ENST00000647227.1:c.1030G>A | ||
| ENST00000268704.6:c.1267G>A | ENSP00000268704.2:p.Gly423Ser | |
| ENST00000341316.6:c.1267G>A | ENSP00000341157.2:p.Gly423Ser | |
| ENST00000561945.1:n.311G>A | ||
| ENST00000567138.2:c.149G>A | ||
| ENST00000620811.4:c.-310G>A | ENSP00000478030.1:n.-310G>A | |
| NM_003119.3:c.1267G>A | NP_003110.1:p.Gly423Ser | |
| NM_199367.2:c.1267G>A | NP_955399.1:p.Gly423Ser | |
| XM_005256321.3:c.1267G>A | XP_005256378.1:p.Gly423Ser | |
| XM_006721264.2:c.1267G>A | XP_006721327.1:p.Gly423Ser | |
| XM_011523306.1:c.1267G>A | XP_011521608.1:p.Gly423Ser | |
| XM_011523307.1:c.1267G>A | XP_011521609.1:p.Gly423Ser | |
| NM_001363850.1:c.1267G>A | NP_001350779.1:p.Gly423Ser | |
| XM_005256321.4:c.1267G>A | XP_005256378.1:p.Gly423Ser | |
| XM_006721264.4:c.1267G>A | XP_006721327.1:p.Gly423Ser | |
| XM_017023597.1:c.1267G>A | XP_016879086.1:p.Gly423Ser | |
| XM_017023598.1:c.1267G>A | XP_016879087.1:p.Gly423Ser | |
| XR_001751971.2:n.1306G>A | ||
| XR_001751972.2:n.1306G>A | ||
| NM_003119.4:c.1267G>A MANE Select | NP_003110.1:p.Gly423Ser | |
| NM_199367.3:c.1267G>A | NP_955399.1:p.Gly423Ser |