Linked Data
ClinVar Variation Id:
1267312
ClinVar RCV Id:
RCV001677337
dbSNP Id:
rs3765456
ExAC:
20:44756891 G / A
gnomAD v2:
20-44756891-G-A
gnomAD v3:
20-46128252-G-A
gnomAD v4:
20-46128252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46128252G>A , CM000682.2:g.46128252G>A | GRCh38 |
| NC_000020.10:g.44756891G>A , CM000682.1:g.44756891G>A | GRCh37 |
| NC_000020.9:g.44190298G>A | NCBI36 |
| NG_007279.1:g.14986G>A , LRG_40:g.14986G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477696.6:c.648+28G>A | ENSP00000512095.1:n.648+28G>A | |
| ENST00000489304.6:c.729+28G>A | ENSP00000512096.1:n.729+28G>A | |
| ENST00000695670.1:n.627+16G>A | ||
| ENST00000695671.1:c.686+28G>A | ENSP00000512093.1:n.686+28G>A | |
| ENST00000695674.1:n.1125+28G>A | ||
| ENST00000695675.1:n.2522+28G>A | ||
| ENST00000372285.8:c.646+28G>A MANE Select | ENSP00000361359.3:n.646+28G>A | |
| ENST00000372276.7:c.584+28G>A | ENSP00000361350.3:n.584+28G>A | |
| ENST00000372285.7:c.646+28G>A | ENSP00000361359.3:n.646+28G>A | |
| ENST00000466205.5:c.548+28G>A | ||
| ENST00000477696.5:n.619+28G>A | ||
| ENST00000489304.5:n.722+28G>A | ||
| ENST00000620709.4:c.*193+28G>A | ENSP00000484074.1:n.*193+28G>A | |
| NM_001250.5:c.646+28G>A | NP_001241.1:n.646+28G>A | |
| NM_001302753.1:c.686+28G>A | NP_001289682.1:n.686+28G>A | |
| NM_152854.3:c.584+28G>A | NP_690593.1:n.584+28G>A | |
| NR_126502.1:n.739+28G>A | ||
| XM_005260617.2:c.658+16G>A | XP_005260674.1:n.658+16G>A | |
| XM_005260619.2:c.502+16G>A | XP_005260676.1:n.502+16G>A | |
| XR_936660.1:n.646+28G>A | ||
| NM_001322421.1:c.658+16G>A | NP_001309350.1:n.658+16G>A | |
| NM_001322422.1:c.490+28G>A | NP_001309351.1:n.490+28G>A | |
| NM_001362758.1:c.646+28G>A | NP_001349687.1:n.646+28G>A | |
| NR_136327.1:n.642+28G>A | ||
| XM_005260619.3:c.502+16G>A | XP_005260676.1:n.502+16G>A | |
| XM_017028135.1:c.686+28G>A | XP_016883624.1:n.686+28G>A | |
| XM_017028136.1:c.584+28G>A | XP_016883625.1:n.584+28G>A | |
| NM_001250.6:c.646+28G>A MANE Select | NP_001241.1:n.646+28G>A | |
| NM_001302753.2:c.686+28G>A | NP_001289682.1:n.686+28G>A | |
| NM_001322421.2:c.658+16G>A | NP_001309350.1:n.658+16G>A | |
| NM_001322422.2:c.490+28G>A | NP_001309351.1:n.490+28G>A | |
| NM_001362758.2:c.646+28G>A | NP_001349687.1:n.646+28G>A | |
| NM_152854.4:c.584+28G>A | NP_690593.1:n.584+28G>A | |
| NR_126502.2:n.679+28G>A | ||
| NR_136327.2:n.582+28G>A |