Linked Data
dbSNP Id:
rs111757940
gnomAD v2:
20-3194098-A-G
gnomAD v3:
20-3213452-A-G
gnomAD v4:
20-3213452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3213452A>G , CM000682.2:g.3213452A>G | GRCh38 |
| NC_000020.10:g.3194098A>G , CM000682.1:g.3194098A>G | GRCh37 |
| NC_000020.9:g.3142098A>G | NCBI36 |
| NG_012093.1:g.9043A>G | |
| NG_012093.2:g.9586A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380113.8:c.189+69A>G MANE Select | ENSP00000369456.3:n.189+69A>G | |
| ENST00000380113.7:c.189+69A>G | ENSP00000369456.3:n.189+69A>G | |
| ENST00000399838.3:c.67-533A>G | ENSP00000382732.3:n.67-533A>G | |
| ENST00000455664.6:c.138+69A>G | ENSP00000413282.1:n.138+69A>G | |
| ENST00000460550.5:n.163+226A>G | ||
| ENST00000460676.5:n.302+26A>G | ||
| ENST00000483354.5:n.224+226A>G | ||
| ENST00000490838.6:n.173+69A>G | ||
| ENST00000609835.5:n.243+69A>G | ||
| NM_001267623.1:c.67-533A>G | NP_001254552.1:n.67-533A>G | |
| NM_033453.3:c.189+69A>G | NP_258412.1:n.189+69A>G | |
| NM_181493.2:c.138+69A>G | NP_852470.1:n.138+69A>G | |
| NR_052000.1:n.224+226A>G | ||
| NR_052001.1:n.174+69A>G | ||
| NR_052002.1:n.316+226A>G | ||
| XM_006723564.2:c.189+69A>G | XP_006723627.1:n.189+69A>G | |
| XM_006723565.2:c.67-533A>G | XP_006723628.1:n.67-533A>G | |
| XM_011529234.1:c.189+69A>G | XP_011527536.1:n.189+69A>G | |
| XM_011529235.1:c.189+69A>G | XP_011527537.1:n.189+69A>G | |
| NM_001324236.1:c.-149+69A>G | NP_001311165.1:n.-149+69A>G | |
| NM_001324237.1:c.-149+69A>G | NP_001311166.1:n.-149+69A>G | |
| NM_001324238.1:c.-149+69A>G | NP_001311167.1:n.-149+69A>G | |
| NM_001324240.1:c.189+69A>G | NP_001311169.1:n.189+69A>G | |
| NM_001351739.1:c.-149+69A>G | NP_001338668.1:n.-149+69A>G | |
| NM_181493.3:c.138+69A>G | NP_852470.1:n.138+69A>G | |
| XM_006723564.3:c.189+69A>G | XP_006723627.1:n.189+69A>G | |
| XM_006723565.3:c.67-533A>G | XP_006723628.1:n.67-533A>G | |
| XM_011529234.2:c.189+69A>G | XP_011527536.1:n.189+69A>G | |
| XM_024451880.1:c.-681A>G | XP_024307648.1:n.-681A>G | |
| NM_033453.4:c.189+69A>G MANE Select | NP_258412.1:n.189+69A>G | |
| NM_001267623.2:c.67-533A>G | NP_001254552.1:n.67-533A>G | |
| NM_001324236.2:c.-149+69A>G | NP_001311165.1:n.-149+69A>G | |
| NM_001324237.2:c.-149+69A>G | NP_001311166.1:n.-149+69A>G | |
| NM_001324238.2:c.-149+69A>G | NP_001311167.1:n.-149+69A>G | |
| NM_001324240.2:c.189+69A>G | NP_001311169.1:n.189+69A>G | |
| NM_001351739.2:c.-149+69A>G | NP_001338668.1:n.-149+69A>G | |
| NM_181493.4:c.138+69A>G | NP_852470.1:n.138+69A>G | |
| NR_052000.2:n.416+226A>G | ||
| NR_052002.2:n.178+226A>G |