Linked Data
ClinVar Variation Id:
417865
dbSNP Id:
rs536617217
ExAC:
18:29102049 C / T
gnomAD v2:
18-29102049-C-T
gnomAD v3:
18-31522086-C-T
gnomAD v4:
18-31522086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522086C>T , CM000680.2:g.31522086C>T | GRCh38 |
| NC_000018.9:g.29102049C>T , CM000680.1:g.29102049C>T | GRCh37 |
| NC_000018.8:g.27356047C>T | NCBI36 |
| NG_007072.3:g.28845C>T , LRG_397:g.28845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.358C>T | ||
| ENST00000682241.2:c.527C>T | ENSP00000507600.2:p.Thr176Ile | |
| ENST00000683614.2:n.358C>T | ||
| ENST00000682087.1:c.358C>T | ||
| ENST00000682241.1:c.358C>T | ||
| ENST00000683614.1:c.358C>T | ||
| ENST00000683654.1:c.527C>T | ENSP00000506971.1:p.Thr176Ile | |
| ENST00000684461.1:n.1197C>T | ||
| ENST00000261590.13:c.527C>T MANE Select | ENSP00000261590.8:p.Thr176Ile | |
| ENST00000261590.12:c.527C>T | ENSP00000261590.8:p.Thr176Ile | |
| ENST00000585206.1:c.527C>T | ENSP00000462503.1:p.Thr176Ile | |
| NM_001943.3:c.527C>T , LRG_397t1:c.527C>T | NP_001934.2:p.Thr176Ile | |
| NM_001943.4:c.527C>T | NP_001934.2:p.Thr176Ile | |
| XM_024451095.1:c.-8C>T | XP_024306863.1:n.-8C>T | |
| NM_001943.5:c.527C>T MANE Select | NP_001934.2:p.Thr176Ile |