Linked Data
ClinVar Variation Id:
1283248
ClinVar RCV Id:
RCV001689507
dbSNP Id:
rs67002563
gnomAD v2:
20-3194173-G-A
gnomAD v3:
20-3213527-G-A
gnomAD v4:
20-3213527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3213527G>A , CM000682.2:g.3213527G>A | GRCh38 |
| NC_000020.10:g.3194173G>A , CM000682.1:g.3194173G>A | GRCh37 |
| NC_000020.9:g.3142173G>A | NCBI36 |
| NG_012093.1:g.9118G>A | |
| NG_012093.2:g.9661G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380113.8:c.189+144G>A MANE Select | ENSP00000369456.3:n.189+144G>A | |
| ENST00000380113.7:c.189+144G>A | ENSP00000369456.3:n.189+144G>A | |
| ENST00000399838.3:c.67-458G>A | ENSP00000382732.3:n.67-458G>A | |
| ENST00000455664.6:c.138+144G>A | ENSP00000413282.1:n.138+144G>A | |
| ENST00000460550.5:n.163+301G>A | ||
| ENST00000460676.5:n.302+101G>A | ||
| ENST00000483354.5:n.224+301G>A | ||
| ENST00000490838.6:n.173+144G>A | ||
| ENST00000609835.5:n.243+144G>A | ||
| NM_001267623.1:c.67-458G>A | NP_001254552.1:n.67-458G>A | |
| NM_033453.3:c.189+144G>A | NP_258412.1:n.189+144G>A | |
| NM_181493.2:c.138+144G>A | NP_852470.1:n.138+144G>A | |
| NR_052000.1:n.224+301G>A | ||
| NR_052001.1:n.174+144G>A | ||
| NR_052002.1:n.316+301G>A | ||
| XM_006723564.2:c.189+144G>A | XP_006723627.1:n.189+144G>A | |
| XM_006723565.2:c.67-458G>A | XP_006723628.1:n.67-458G>A | |
| XM_011529234.1:c.189+144G>A | XP_011527536.1:n.189+144G>A | |
| XM_011529235.1:c.189+144G>A | XP_011527537.1:n.189+144G>A | |
| NM_001324236.1:c.-149+144G>A | NP_001311165.1:n.-149+144G>A | |
| NM_001324237.1:c.-149+144G>A | NP_001311166.1:n.-149+144G>A | |
| NM_001324238.1:c.-149+144G>A | NP_001311167.1:n.-149+144G>A | |
| NM_001324240.1:c.189+144G>A | NP_001311169.1:n.189+144G>A | |
| NM_001351739.1:c.-149+144G>A | NP_001338668.1:n.-149+144G>A | |
| NM_181493.3:c.138+144G>A | NP_852470.1:n.138+144G>A | |
| XM_006723564.3:c.189+144G>A | XP_006723627.1:n.189+144G>A | |
| XM_006723565.3:c.67-458G>A | XP_006723628.1:n.67-458G>A | |
| XM_011529234.2:c.189+144G>A | XP_011527536.1:n.189+144G>A | |
| XM_024451880.1:c.-606G>A | XP_024307648.1:n.-606G>A | |
| NM_033453.4:c.189+144G>A MANE Select | NP_258412.1:n.189+144G>A | |
| NM_001267623.2:c.67-458G>A | NP_001254552.1:n.67-458G>A | |
| NM_001324236.2:c.-149+144G>A | NP_001311165.1:n.-149+144G>A | |
| NM_001324237.2:c.-149+144G>A | NP_001311166.1:n.-149+144G>A | |
| NM_001324238.2:c.-149+144G>A | NP_001311167.1:n.-149+144G>A | |
| NM_001324240.2:c.189+144G>A | NP_001311169.1:n.189+144G>A | |
| NM_001351739.2:c.-149+144G>A | NP_001338668.1:n.-149+144G>A | |
| NM_181493.4:c.138+144G>A | NP_852470.1:n.138+144G>A | |
| NR_052000.2:n.416+301G>A | ||
| NR_052002.2:n.178+301G>A |