Linked Data
ClinVar Variation Id:
1016712
dbSNP Id:
rs777898500
ExAC:
1:17371359 C / T
gnomAD v2:
1-17371359-C-T
gnomAD v4:
1-17044864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044864C>T , CM000663.2:g.17044864C>T | GRCh38 |
| NC_000001.10:g.17371359C>T , CM000663.1:g.17371359C>T | GRCh37 |
| NC_000001.9:g.17243946C>T | NCBI36 |
| NG_012340.1:g.14307G>A , LRG_316:g.14307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-75G>A | ENSP00000481376.2:n.-75G>A | |
| ENST00000491274.6:c.55G>A | ENSP00000480482.2:p.Ala19Thr | |
| ENST00000375499.8:c.97G>A MANE Select | ENSP00000364649.3:p.Ala33Thr | |
| ENST00000375499.7:c.97G>A | ENSP00000364649.3:p.Ala33Thr | |
| ENST00000463045.2:c.-75G>A | ENSP00000481376.1:n.-75G>A | |
| ENST00000466613.2:n.109G>A | ||
| ENST00000475506.1:n.14G>A | ||
| ENST00000485515.5:n.85G>A | ||
| ENST00000491274.5:c.55G>A | ENSP00000480482.1:p.Ala19Thr | |
| NM_003000.2:c.97G>A , LRG_316t1:c.97G>A | NP_002991.2:p.Ala33Thr | |
| NM_003000.3:c.97G>A MANE Select | NP_002991.2:p.Ala33Thr |