Linked Data
ClinVar Variation Id:
1144756
ClinVar RCV Id:
RCV001483359
dbSNP Id:
rs138007992
ExAC:
1:161276517 C / A
gnomAD v2:
1-161276517-C-A
gnomAD v3:
1-161306727-C-A
gnomAD v4:
1-161306727-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306727C>A , CM000663.2:g.161306727C>A | GRCh38 |
| NC_000001.10:g.161276517C>A , CM000663.1:g.161276517C>A | GRCh37 |
| NC_000001.9:g.159543141C>A | NCBI36 |
| NG_008055.1:g.8246G>T , LRG_256:g.8246G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+62G>T | ENSP00000488104.2:n.367+62G>T | |
| ENST00000533357.5:c.429G>T MANE Select | ENSP00000432943.1:p.Thr143= | |
| ENST00000672287.2:c.-160G>T | ENSP00000499818.2:n.-160G>T | |
| ENST00000672602.2:c.429G>T | ENSP00000500814.2:p.Thr143= | |
| ENST00000674861.1:n.492G>T | ||
| ENST00000463290.5:c.429G>T | ENSP00000431538.1:p.Thr143= | |
| ENST00000491222.5:c.-160G>T | ENSP00000431441.1:n.-160G>T | |
| ENST00000526189.2:c.111+62G>T | ||
| ENST00000533357.4:c.429G>T | ENSP00000432943.1:p.Thr143= | |
| NM_000530.6:c.429G>T , LRG_256t1:c.429G>T | NP_000521.2:p.Thr143= | |
| NM_000530.7:c.429G>T | NP_000521.2:p.Thr143= | |
| NM_001315491.1:c.429G>T | NP_001302420.1:p.Thr143= | |
| XM_017001321.2:c.459G>T | XP_016856810.1:p.Thr153= | |
| NM_000530.8:c.429G>T MANE Select | NP_000521.2:p.Thr143= | |
| NM_001315491.2:c.429G>T | NP_001302420.1:p.Thr143= |