Linked Data
ClinVar Variation Id:
822717
dbSNP Id:
rs777578399
ExAC:
1:17355214 C / T
gnomAD v2:
1-17355214-C-T
gnomAD v4:
1-17028719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028719C>T , CM000663.2:g.17028719C>T | GRCh38 |
| NC_000001.10:g.17355214C>T , CM000663.1:g.17355214C>T | GRCh37 |
| NC_000001.9:g.17227801C>T | NCBI36 |
| NG_012340.1:g.30452G>A , LRG_316:g.30452G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.133G>A | ENSP00000481376.2:p.Ala45Thr | |
| ENST00000491274.6:c.262G>A | ENSP00000480482.2:p.Ala88Thr | |
| ENST00000375499.8:c.304G>A MANE Select | ENSP00000364649.3:p.Ala102Thr | |
| ENST00000375499.7:c.304G>A | ENSP00000364649.3:p.Ala102Thr | |
| ENST00000463045.2:c.133G>A | ENSP00000481376.1:p.Ala45Thr | |
| ENST00000475506.1:n.221G>A | ||
| ENST00000485515.5:n.292G>A | ||
| ENST00000491274.5:c.262G>A | ENSP00000480482.1:p.Ala88Thr | |
| NM_003000.2:c.304G>A , LRG_316t1:c.304G>A | NP_002991.2:p.Ala102Thr | |
| NM_003000.3:c.304G>A MANE Select | NP_002991.2:p.Ala102Thr |