Linked Data
ClinVar Variation Id:
227955
dbSNP Id:
rs145166996
ExAC:
2:39250379 A / T
gnomAD v2:
2-39250379-A-T
gnomAD v3:
2-39023238-A-T
gnomAD v4:
2-39023238-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39023238A>T , CM000664.2:g.39023238A>T | GRCh38 |
| NC_000002.11:g.39250379A>T , CM000664.1:g.39250379A>T | GRCh37 |
| NC_000002.10:g.39103883A>T | NCBI36 |
| NG_007530.1:g.102226T>A , LRG_754:g.102226T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1083-13T>A | ||
| ENST00000685279.1:c.-31-13T>A | ENSP00000509424.1:n.-31-13T>A | |
| ENST00000688043.1:n.1424-13T>A | ||
| ENST00000689668.1:n.1210-13T>A | ||
| ENST00000690679.1:c.1390-13T>A | ||
| ENST00000690876.1:c.1092-13T>A | ENSP00000508955.1:n.1092-13T>A | |
| ENST00000691229.1:c.1092-13T>A | ENSP00000510437.1:n.1092-13T>A | |
| ENST00000692089.1:c.1092-13T>A | ENSP00000508626.1:n.1092-13T>A | |
| ENST00000692620.1:c.-31-13T>A | ENSP00000509311.1:n.-31-13T>A | |
| ENST00000402219.8:c.1203-13T>A MANE Select | ENSP00000384675.2:n.1203-13T>A | |
| ENST00000395038.6:c.1203-13T>A | ENSP00000378479.2:n.1203-13T>A | |
| ENST00000402219.6:c.1203-13T>A | ENSP00000384675.2:n.1203-13T>A | |
| ENST00000426016.5:c.1203-13T>A | ENSP00000387784.1:n.1203-13T>A | |
| ENST00000472480.1:n.47-13T>A | ||
| NM_005633.3:c.1203-13T>A , LRG_754t1:c.1203-13T>A | NP_005624.2:n.1203-13T>A | |
| XM_005264515.3:c.1203-13T>A | XP_005264572.1:n.1203-13T>A | |
| XM_011533060.1:c.1296-13T>A | XP_011531362.1:n.1296-13T>A | |
| XM_011533061.1:c.1296-13T>A | XP_011531363.1:n.1296-13T>A | |
| XM_011533062.1:c.1182-13T>A | XP_011531364.1:n.1182-13T>A | |
| XM_011533063.1:c.1179-13T>A | XP_011531365.1:n.1179-13T>A | |
| XM_011533064.1:c.1032-13T>A | XP_011531366.1:n.1032-13T>A | |
| XM_011533065.1:c.1296-13T>A | XP_011531367.1:n.1296-13T>A | |
| XM_011533066.1:c.138-13T>A | XP_011531368.1:n.138-13T>A | |
| XM_005264515.4:c.1203-13T>A | XP_005264572.1:n.1203-13T>A | |
| XM_011533062.2:c.1182-13T>A | XP_011531364.1:n.1182-13T>A | |
| XM_011533064.2:c.1032-13T>A | XP_011531366.1:n.1032-13T>A | |
| NM_001382394.1:c.1182-13T>A | NP_001369323.1:n.1182-13T>A | |
| NM_001382395.1:c.1203-13T>A | NP_001369324.1:n.1203-13T>A | |
| NM_005633.4:c.1203-13T>A MANE Select | NP_005624.2:n.1203-13T>A |