Linked Data
ClinVar Variation Id:
412468
dbSNP Id:
rs545681543
gnomAD v2:
1-17345405-T-C
gnomAD v3:
1-17018910-T-C
gnomAD v4:
1-17018910-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018910T>C , CM000663.2:g.17018910T>C | GRCh38 |
| NC_000001.10:g.17345405T>C , CM000663.1:g.17345405T>C | GRCh37 |
| NC_000001.9:g.17217992T>C | NCBI36 |
| NG_012340.1:g.40261A>G , LRG_316:g.40261A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.643A>G | ENSP00000481376.2:p.Thr215Ala | |
| ENST00000491274.6:c.772A>G | ENSP00000480482.2:p.Thr258Ala | |
| ENST00000375499.8:c.814A>G MANE Select | ENSP00000364649.3:p.Thr272Ala | |
| ENST00000375499.7:c.814A>G | ENSP00000364649.3:p.Thr272Ala | |
| ENST00000475049.5:n.239A>G | ||
| ENST00000485092.5:n.478A>G | ||
| NM_003000.2:c.814A>G , LRG_316t1:c.814A>G | NP_002991.2:p.Thr272Ala | |
| NM_003000.3:c.814A>G MANE Select | NP_002991.2:p.Thr272Ala |