Linked Data
ClinVar Variation Id:
1303359
dbSNP Id:
rs747946828
ExAC:
2:189907957 C / A
gnomAD v2:
2-189907957-C-A
gnomAD v3:
2-189043231-C-A
gnomAD v4:
2-189043231-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043231C>A , CM000664.2:g.189043231C>A | GRCh38 |
| NC_000002.11:g.189907957C>A , CM000664.1:g.189907957C>A | GRCh37 |
| NC_000002.10:g.189616202C>A | NCBI36 |
| NG_011799.1:g.141649G>T | |
| NG_011799.2:g.141649G>T | |
| NG_011799.3:g.187071G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.3391G>T MANE Select | ENSP00000364000.3:p.Gly1131Cys | |
| ENST00000374866.7:c.3391G>T | ENSP00000364000.3:p.Gly1131Cys | |
| ENST00000618828.1:c.2230G>T | ENSP00000482184.1:p.Gly744Cys | |
| NM_000393.3:c.3391G>T | NP_000384.2:p.Gly1131Cys | |
| XM_011510573.1:c.3253G>T | XP_011508875.1:p.Gly1085Cys | |
| NM_000393.4:c.3391G>T | NP_000384.2:p.Gly1131Cys | |
| XM_011510573.3:c.3253G>T | XP_011508875.1:p.Gly1085Cys | |
| NM_000393.5:c.3391G>T MANE Select | NP_000384.2:p.Gly1131Cys |