Linked Data
ClinVar Variation Id:
532185
dbSNP Id:
rs34751757
ExAC:
12:6442956 G / A
gnomAD v2:
12-6442956-G-A
gnomAD v3:
12-6333790-G-A
gnomAD v4:
12-6333790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333790G>A , CM000674.2:g.6333790G>A | GRCh38 |
| NC_000012.11:g.6442956G>A , CM000674.1:g.6442956G>A | GRCh37 |
| NC_000012.10:g.6313217G>A | NCBI36 |
| NG_007506.1:g.13306C>T , LRG_193:g.13306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.303C>T | ||
| ENST00000437813.8:c.269C>T | ENSP00000513672.1:p.Thr90Ile | |
| ENST00000440083.7:c.269C>T | ENSP00000413224.3:p.Thr90Ile | |
| ENST00000535958.2:c.*96C>T | ENSP00000513673.1:n.*96C>T | |
| ENST00000698339.1:c.269C>T | ENSP00000513670.1:p.Thr90Ile | |
| ENST00000698340.1:c.269C>T | ENSP00000513671.1:p.Thr90Ile | |
| ENST00000162749.7:c.269C>T MANE Select | ENSP00000162749.2:p.Thr90Ile | |
| ENST00000162749.6:c.269C>T | ENSP00000162749.2:p.Thr90Ile | |
| ENST00000366159.8:c.269C>T | ENSP00000380389.3:p.Thr90Ile | |
| ENST00000437813.7:n.230C>T | ||
| ENST00000440083.6:c.269C>T | ENSP00000413224.2:p.Thr90Ile | |
| ENST00000534885.5:c.115C>T | ENSP00000441803.1:p.Pro39Ser | |
| ENST00000535958.1:n.515C>T | ||
| ENST00000536194.1:c.242C>T | ENSP00000442919.1:p.Thr81Ile | |
| ENST00000539372.5:c.269C>T | ENSP00000442059.1:p.Thr90Ile | |
| ENST00000540022.5:c.194-274C>T | ENSP00000438343.1:n.194-274C>T | |
| ENST00000543048.5:c.214+55C>T | ENSP00000439981.1:n.214+55C>T | |
| ENST00000543995.5:c.193+301C>T | ENSP00000442405.1:n.193+301C>T | |
| NM_001065.3:c.269C>T , LRG_193t1:c.269C>T | NP_001056.1:p.Thr90Ile | |
| NM_001346091.1:c.-56C>T | NP_001333020.1:n.-56C>T | |
| NM_001346092.1:c.-309C>T | NP_001333021.1:n.-309C>T | |
| NR_144351.1:n.572C>T | ||
| NM_001065.4:c.269C>T MANE Select | NP_001056.1:p.Thr90Ile | |
| NM_001346091.2:c.-56C>T | NP_001333020.1:n.-56C>T | |
| NM_001346092.2:c.-309C>T | NP_001333021.1:n.-309C>T | |
| NR_144351.2:n.531C>T |