Linked Data
ClinVar Variation Id:
2069969
ClinVar RCV Id:
RCV002966779
dbSNP Id:
rs200936451
gnomAD v3:
1-26779145-G-A
gnomAD v4:
1-26779145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779145G>A , CM000663.2:g.26779145G>A | GRCh38 |
| NC_000001.10:g.27105636G>A , CM000663.1:g.27105636G>A | GRCh37 |
| NC_000001.9:g.26978223G>A | NCBI36 |
| NG_029965.1:g.88115G>A , LRG_875:g.88115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5247G>A MANE Select | ENSP00000320485.7:p.Arg1749= | |
| ENST00000374152.7:c.4098G>A | ENSP00000363267.2:p.Arg1366= | |
| ENST00000430799.7:c.4095G>A | ENSP00000390317.3:p.Arg1365= | |
| ENST00000466382.2:c.664G>A | ||
| ENST00000636219.1:c.4101G>A | ENSP00000489842.1:p.Arg1367= | |
| ENST00000637788.1:n.1047G>A | ||
| ENST00000324856.11:c.5247G>A | ENSP00000320485.7:p.Arg1749= | |
| ENST00000374152.6:c.4098G>A | ENSP00000363267.2:p.Arg1366= | |
| ENST00000430799.6:c.1936G>A | ||
| ENST00000457599.6:c.4596G>A | ENSP00000387636.2:p.Arg1532= | |
| ENST00000466382.1:c.664G>A | ||
| ENST00000532781.1:c.745G>A | ||
| NM_006015.4:c.5247G>A , LRG_875t1:c.5247G>A | NP_006006.3:p.Arg1749= | |
| NM_139135.2:c.4596G>A | NP_624361.1:p.Arg1532= | |
| NM_006015.5:c.5247G>A | NP_006006.3:p.Arg1749= | |
| NM_139135.3:c.4596G>A | NP_624361.1:p.Arg1532= | |
| NM_006015.6:c.5247G>A MANE Select | NP_006006.3:p.Arg1749= | |
| NM_139135.4:c.4596G>A | NP_624361.1:p.Arg1532= |