Linked Data
ClinVar Variation Id:
338754
ClinVar RCV Id:
RCV000882123
dbSNP Id:
rs758553918
gnomAD v2:
20-49565158-C-T
gnomAD v3:
20-50948621-C-T
gnomAD v4:
20-50948621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50948621C>T , CM000682.2:g.50948621C>T | GRCh38 |
| NC_000020.10:g.49565158C>T , CM000682.1:g.49565158C>T | GRCh37 |
| NC_000020.9:g.48998565C>T | NCBI36 |
| NG_008923.1:g.14903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.295+8G>A | ENSP00000360640.5:n.295+8G>A | |
| ENST00000681979.1:n.189+8G>A | ||
| ENST00000682713.1:n.844+8G>A | ||
| ENST00000682754.1:n.293+8G>A | ||
| ENST00000683010.1:n.2002+8G>A | ||
| ENST00000683048.1:c.295+8G>A | ENSP00000506986.1:n.295+8G>A | |
| ENST00000683466.1:c.-21+8G>A | ENSP00000507404.1:n.-21+8G>A | |
| ENST00000684708.1:n.224+8G>A | ||
| ENST00000371588.10:c.295+8G>A MANE Select | ENSP00000360644.5:n.295+8G>A | |
| ENST00000371582.8:c.295+8G>A | ENSP00000360638.4:n.295+8G>A | |
| ENST00000371584.8:c.293+8G>A | ||
| ENST00000371588.9:c.295+8G>A | ENSP00000360644.5:n.295+8G>A | |
| ENST00000413082.1:c.295+8G>A | ENSP00000394921.1:n.295+8G>A | |
| ENST00000466152.5:n.322+8G>A | ||
| NM_001317034.1:c.295+8G>A | NP_001303963.1:n.295+8G>A | |
| NM_001317035.1:c.295+8G>A | NP_001303964.1:n.295+8G>A | |
| NM_001317036.1:c.295+8G>A | NP_001303965.1:n.295+8G>A | |
| NM_003859.1:c.295+8G>A | NP_003850.1:n.295+8G>A | |
| NM_003859.2:c.295+8G>A | NP_003850.1:n.295+8G>A | |
| NR_133648.1:n.336+8G>A | ||
| XM_011529093.1:c.295+8G>A | XP_011527395.1:n.295+8G>A | |
| XM_011529094.1:c.295+8G>A | XP_011527396.1:n.295+8G>A | |
| XR_002958550.1:n.333+8G>A | ||
| XR_002958551.1:n.334+8G>A | ||
| NM_003859.3:c.295+8G>A MANE Select | NP_003850.1:n.295+8G>A | |
| NR_133648.2:n.304+8G>A |