Linked Data
ClinVar Variation Id:
946542
ClinVar RCV Id:
RCV001217427
dbSNP Id:
rs975269028
gnomAD v2:
6-24503593-A-G
gnomAD v3:
6-24503365-A-G
gnomAD v4:
6-24503365-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503365A>G , CM000668.2:g.24503365A>G | GRCh38 |
| NC_000006.11:g.24503593A>G , CM000668.1:g.24503593A>G | GRCh37 |
| NC_000006.10:g.24611572A>G | NCBI36 |
| NG_008161.1:g.13397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.541A>G MANE Select | ENSP00000350191.3:p.Thr181Ala | |
| ENST00000672352.1:c.304A>G | ENSP00000500876.1:p.Thr102Ala | |
| ENST00000672557.1:c.459A>G | ||
| ENST00000672652.1:c.462A>G | ||
| ENST00000675422.1:n.1301A>G | ||
| ENST00000348925.2:c.541A>G | ENSP00000314649.3:p.Thr181Ala | |
| ENST00000357578.7:c.541A>G | ENSP00000350191.3:p.Thr181Ala | |
| ENST00000491546.5:c.457A>G | ENSP00000417687.1:p.Thr153Ala | |
| NM_001080.3:c.541A>G MANE Select | NP_001071.1:p.Thr181Ala | |
| NM_170740.1:c.541A>G | NP_733936.1:p.Thr181Ala | |
| NM_001368954.1:c.541A>G | NP_001355883.1:p.Thr181Ala |