Linked Data
ClinVar Variation Id:
423881
ClinVar RCV Id:
RCV000483758
dbSNP Id:
rs1040238147
gnomAD v2:
2-189915366-C-T
gnomAD v4:
2-189050640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050640C>T , CM000664.2:g.189050640C>T | GRCh38 |
| NC_000002.11:g.189915366C>T , CM000664.1:g.189915366C>T | GRCh37 |
| NC_000002.10:g.189623611C>T | NCBI36 |
| NG_011799.1:g.134240G>A | |
| NG_011799.2:g.134240G>A | |
| NG_011799.3:g.179662G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.2968G>A MANE Select | ENSP00000364000.3:p.Gly990Arg | |
| ENST00000374866.7:c.2968G>A | ENSP00000364000.3:p.Gly990Arg | |
| ENST00000618828.1:c.1807G>A | ENSP00000482184.1:p.Gly603Arg | |
| NM_000393.3:c.2968G>A | NP_000384.2:p.Gly990Arg | |
| XM_011510573.1:c.2830G>A | XP_011508875.1:p.Gly944Arg | |
| NM_000393.4:c.2968G>A | NP_000384.2:p.Gly990Arg | |
| XM_011510573.3:c.2830G>A | XP_011508875.1:p.Gly944Arg | |
| NM_000393.5:c.2968G>A MANE Select | NP_000384.2:p.Gly990Arg |