Linked Data
ClinVar Variation Id:
1413406
dbSNP Id:
rs773726323
ExAC:
2:189927608 C / T
gnomAD v2:
2-189927608-C-T
gnomAD v3:
2-189062882-C-T
gnomAD v4:
2-189062882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062882C>T , CM000664.2:g.189062882C>T | GRCh38 |
| NC_000002.11:g.189927608C>T , CM000664.1:g.189927608C>T | GRCh37 |
| NC_000002.10:g.189635853C>T | NCBI36 |
| NG_011799.1:g.121998G>A | |
| NG_011799.2:g.121998G>A | |
| NG_011799.3:g.167420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.1960G>A MANE Select | ENSP00000364000.3:p.Gly654Ser | |
| ENST00000374866.7:c.1960G>A | ENSP00000364000.3:p.Gly654Ser | |
| ENST00000470524.2:n.66G>A | ||
| ENST00000618828.1:c.799G>A | ENSP00000482184.1:p.Gly267Ser | |
| NM_000393.3:c.1960G>A | NP_000384.2:p.Gly654Ser | |
| XM_011510573.1:c.1822G>A | XP_011508875.1:p.Gly608Ser | |
| NM_000393.4:c.1960G>A | NP_000384.2:p.Gly654Ser | |
| XM_011510573.3:c.1822G>A | XP_011508875.1:p.Gly608Ser | |
| NM_000393.5:c.1960G>A MANE Select | NP_000384.2:p.Gly654Ser |