Linked Data
ClinVar Variation Id:
517655
dbSNP Id:
rs760068474
ExAC:
2:73681095 G / A
gnomAD v2:
2-73681095-G-A
gnomAD v3:
2-73453968-G-A
gnomAD v4:
2-73453968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73453968G>A , CM000664.2:g.73453968G>A | GRCh38 |
| NC_000002.11:g.73681095G>A , CM000664.1:g.73681095G>A | GRCh37 |
| NC_000002.10:g.73534603G>A | NCBI36 |
| NG_011690.1:g.73216G>A , LRG_741:g.73216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7060G>A | ENSP00000507671.1:p.Ala2354Thr | |
| ENST00000682801.1:c.7060G>A | ENSP00000507862.1:p.Ala2354Thr | |
| ENST00000682859.1:c.7060G>A | ENSP00000508222.1:p.Ala2354Thr | |
| ENST00000683791.1:c.685+21677G>A | ||
| ENST00000684197.1:n.2410G>A | ||
| ENST00000684460.1:c.4512G>A | ||
| ENST00000684548.1:c.7060G>A | ENSP00000507421.1:p.Ala2354Thr | |
| ENST00000684590.1:c.1558G>A | ENSP00000507376.1:p.Ala520Thr | |
| ENST00000684656.1:c.4512G>A | ||
| ENST00000613296.6:c.7441G>A MANE Select | ENSP00000482968.1:p.Ala2481Thr | |
| ENST00000651434.1:c.662G>A | ||
| ENST00000423048.5:c.2272G>A | ENSP00000399833.1:p.Ala758Thr | |
| ENST00000484298.5:c.7315G>A | ENSP00000478155.1:p.Ala2439Thr | |
| ENST00000613296.4:c.7441G>A | ENSP00000482968.1:p.Ala2481Thr | |
| ENST00000614410.4:c.7441G>A | ENSP00000479094.1:p.Ala2481Thr | |
| ENST00000620466.4:n.1244G>A | ||
| NM_015120.4:c.7444G>A , LRG_741t1:c.7444G>A | NP_055935.4:p.Ala2482Thr | |
| NM_001378454.1:c.7441G>A MANE Select | NP_001365383.1:p.Ala2481Thr |