Linked Data
ClinVar Variation Id:
215198
dbSNP Id:
rs535030441
ExAC:
16:89574829 G / A
gnomAD v2:
16-89574829-G-A
gnomAD v3:
16-89508421-G-A
gnomAD v4:
16-89508421-G-A
PubMed:
PMID:16534102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89508421G>A , CM000678.2:g.89508421G>A | GRCh38 |
| NC_000016.9:g.89574829G>A , CM000678.1:g.89574829G>A | GRCh37 |
| NC_000016.8:g.88102330G>A | NCBI36 |
| NG_008082.1:g.5025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.4G>A | ENSP00000268704.3:p.Ala2Thr | |
| ENST00000564047.2:n.13G>A | ||
| ENST00000566371.6:c.4G>A | ENSP00000454475.2:p.Ala2Thr | |
| ENST00000569363.2:n.19G>A | ||
| ENST00000642436.1:n.16G>A | ||
| ENST00000643307.1:c.4G>A | ENSP00000495673.1:p.Ala2Thr | |
| ENST00000643345.1:c.4G>A | ENSP00000493982.1:p.Ala2Thr | |
| ENST00000643649.1:c.4G>A | ENSP00000494806.1:p.Ala2Thr | |
| ENST00000643668.1:c.4G>A | ENSP00000494903.1:p.Ala2Thr | |
| ENST00000643724.1:c.4G>A | ENSP00000496335.1:p.Ala2Thr | |
| ENST00000644210.1:c.4G>A | ENSP00000495675.1:p.Ala2Thr | |
| ENST00000644225.1:n.21G>A | ||
| ENST00000644498.1:c.4G>A | ENSP00000496244.1:p.Ala2Thr | |
| ENST00000644781.1:c.4G>A | ENSP00000495473.1:p.Ala2Thr | |
| ENST00000644901.1:c.4G>A | ENSP00000493797.1:p.Ala2Thr | |
| ENST00000645042.1:c.4G>A | ENSP00000493908.1:p.Ala2Thr | |
| ENST00000645063.1:c.4G>A | ENSP00000493590.1:p.Ala2Thr | |
| ENST00000645533.1:c.4G>A | ENSP00000495690.1:p.Ala2Thr | |
| ENST00000645818.2:c.4G>A MANE Select | ENSP00000495795.2:p.Ala2Thr | |
| ENST00000645897.1:c.4G>A | ENSP00000495293.1:p.Ala2Thr | |
| ENST00000645977.1:n.19G>A | ||
| ENST00000646263.1:c.4G>A | ENSP00000494119.1:p.Ala2Thr | |
| ENST00000646303.1:c.51+681G>A | ENSP00000494160.1:n.51+681G>A | |
| ENST00000646531.1:c.4G>A | ENSP00000495185.1:p.Ala2Thr | |
| ENST00000646589.1:c.4G>A | ENSP00000494739.1:p.Ala2Thr | |
| ENST00000646716.1:c.4G>A | ENSP00000495593.1:p.Ala2Thr | |
| ENST00000646826.1:c.4G>A | ENSP00000495123.1:p.Ala2Thr | |
| ENST00000646930.1:c.4G>A | ENSP00000495219.1:p.Ala2Thr | |
| ENST00000647079.1:c.-225-2069G>A | ENSP00000495967.1:n.-225-2069G>A | |
| ENST00000268704.6:c.4G>A | ENSP00000268704.2:p.Ala2Thr | |
| ENST00000341316.6:c.4G>A | ENSP00000341157.2:p.Ala2Thr | |
| ENST00000563783.5:n.471-2069G>A | ||
| ENST00000566371.5:c.51+681G>A | ENSP00000454475.1:n.51+681G>A | |
| ENST00000620811.4:c.-1573G>A | ENSP00000478030.1:n.-1573G>A | |
| NM_003119.3:c.4G>A | NP_003110.1:p.Ala2Thr | |
| NM_199367.2:c.4G>A | NP_955399.1:p.Ala2Thr | |
| XM_005256321.3:c.4G>A | XP_005256378.1:p.Ala2Thr | |
| XM_006721264.2:c.4G>A | XP_006721327.1:p.Ala2Thr | |
| XM_011523306.1:c.4G>A | XP_011521608.1:p.Ala2Thr | |
| XM_011523307.1:c.4G>A | XP_011521609.1:p.Ala2Thr | |
| NM_001363850.1:c.4G>A | NP_001350779.1:p.Ala2Thr | |
| XM_005256321.4:c.4G>A | XP_005256378.1:p.Ala2Thr | |
| XM_006721264.4:c.4G>A | XP_006721327.1:p.Ala2Thr | |
| XM_017023597.1:c.4G>A | XP_016879086.1:p.Ala2Thr | |
| XM_017023598.1:c.4G>A | XP_016879087.1:p.Ala2Thr | |
| XR_001751971.2:n.43G>A | ||
| XR_001751972.2:n.43G>A | ||
| NM_003119.4:c.4G>A MANE Select | NP_003110.1:p.Ala2Thr | |
| NM_199367.3:c.4G>A | NP_955399.1:p.Ala2Thr |