Linked Data
ClinVar Variation Id:
205073
dbSNP Id:
rs780962241
ExAC:
1:154544209 A / G
gnomAD v2:
1-154544209-A-G
gnomAD v3:
1-154571733-A-G
gnomAD v4:
1-154571733-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571733A>G , CM000663.2:g.154571733A>G | GRCh38 |
| NC_000001.10:g.154544209A>G , CM000663.1:g.154544209A>G | GRCh37 |
| NC_000001.9:g.152810833A>G | NCBI36 |
| NG_008027.1:g.8953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.910A>G MANE Select | ENSP00000357461.3:p.Thr304Ala | |
| ENST00000636034.1:c.910A>G | ENSP00000489703.1:p.Thr304Ala | |
| ENST00000637900.1:c.916A>G | ENSP00000490474.1:p.Thr306Ala | |
| ENST00000368476.3:c.910A>G | ENSP00000357461.3:p.Thr304Ala | |
| NM_000748.2:c.910A>G | NP_000739.1:p.Thr304Ala | |
| XM_017000180.2:c.400A>G | XP_016855669.1:p.Thr134Ala | |
| XR_001736952.2:n.1162A>G | ||
| NM_000748.3:c.910A>G MANE Select | NP_000739.1:p.Thr304Ala |