Linked Data
ClinVar Variation Id:
496312
dbSNP Id:
rs142094234
ExAC:
2:39278394 A / G
gnomAD v2:
2-39278394-A-G
gnomAD v3:
2-39051253-A-G
gnomAD v4:
2-39051253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39051253A>G , CM000664.2:g.39051253A>G | GRCh38 |
| NC_000002.11:g.39278394A>G , CM000664.1:g.39278394A>G | GRCh37 |
| NC_000002.10:g.39131898A>G | NCBI36 |
| NG_007530.1:g.74211T>C , LRG_754:g.74211T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.782T>C | ||
| ENST00000472480.2:n.635T>C | ||
| ENST00000685782.1:n.1593T>C | ||
| ENST00000689668.1:n.762T>C | ||
| ENST00000690679.1:c.855T>C | ||
| ENST00000690876.1:c.755T>C | ENSP00000508955.1:p.Ile252Thr | |
| ENST00000691229.1:c.755T>C | ENSP00000510437.1:p.Ile252Thr | |
| ENST00000692089.1:c.755T>C | ENSP00000508626.1:p.Ile252Thr | |
| ENST00000402219.8:c.755T>C MANE Select | ENSP00000384675.2:p.Ile252Thr | |
| ENST00000395038.6:c.755T>C | ENSP00000378479.2:p.Ile252Thr | |
| ENST00000402219.6:c.755T>C | ENSP00000384675.2:p.Ile252Thr | |
| ENST00000426016.5:c.755T>C | ENSP00000387784.1:p.Ile252Thr | |
| ENST00000461545.1:n.105T>C | ||
| NM_005633.3:c.755T>C , LRG_754t1:c.755T>C | NP_005624.2:p.Ile252Thr | |
| XM_005264515.3:c.755T>C | XP_005264572.1:p.Ile252Thr | |
| XM_011533060.1:c.848T>C | XP_011531362.1:p.Ile283Thr | |
| XM_011533061.1:c.848T>C | XP_011531363.1:p.Ile283Thr | |
| XM_011533062.1:c.734T>C | XP_011531364.1:p.Ile245Thr | |
| XM_011533063.1:c.731T>C | XP_011531365.1:p.Ile244Thr | |
| XM_011533064.1:c.584T>C | XP_011531366.1:p.Ile195Thr | |
| XM_011533065.1:c.848T>C | XP_011531367.1:p.Ile283Thr | |
| XM_005264515.4:c.755T>C | XP_005264572.1:p.Ile252Thr | |
| XM_011533062.2:c.734T>C | XP_011531364.1:p.Ile245Thr | |
| XM_011533064.2:c.584T>C | XP_011531366.1:p.Ile195Thr | |
| NM_001382394.1:c.734T>C | NP_001369323.1:p.Ile245Thr | |
| NM_001382395.1:c.755T>C | NP_001369324.1:p.Ile252Thr | |
| NM_005633.4:c.755T>C MANE Select | NP_005624.2:p.Ile252Thr |