Linked Data
ClinVar Variation Id:
1930096
ClinVar RCV Id:
RCV002626639
dbSNP Id:
rs1396175007
gnomAD v2:
1-27023215-G-A
gnomAD v3:
1-26696724-G-A
gnomAD v4:
1-26696724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696724G>A , CM000663.2:g.26696724G>A | GRCh38 |
| NC_000001.10:g.27023215G>A , CM000663.1:g.27023215G>A | GRCh37 |
| NC_000001.9:g.26895802G>A | NCBI36 |
| NG_029965.1:g.5694G>A , LRG_875:g.5694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.321G>A MANE Select | ENSP00000320485.7:p.Ala107= | |
| ENST00000430799.7:c.-13+3107G>A | ENSP00000390317.3:n.-13+3107G>A | |
| ENST00000637465.1:c.-13+624G>A | ENSP00000490650.1:n.-13+624G>A | |
| ENST00000324856.11:c.321G>A | ENSP00000320485.7:p.Ala107= | |
| ENST00000457599.6:c.321G>A | ENSP00000387636.2:p.Ala107= | |
| NM_006015.4:c.321G>A , LRG_875t1:c.321G>A | NP_006006.3:p.Ala107= | |
| NM_139135.2:c.321G>A | NP_624361.1:p.Ala107= | |
| NM_006015.5:c.321G>A | NP_006006.3:p.Ala107= | |
| NM_139135.3:c.321G>A | NP_624361.1:p.Ala107= | |
| NM_006015.6:c.321G>A MANE Select | NP_006006.3:p.Ala107= | |
| NM_139135.4:c.321G>A | NP_624361.1:p.Ala107= |