Linked Data
ClinVar Variation Id:
338755
dbSNP Id:
rs779869066
ExAC:
20:49574890 G / A
gnomAD v2:
20-49574890-G-A
gnomAD v3:
20-50958353-G-A
gnomAD v4:
20-50958353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50958353G>A , CM000682.2:g.50958353G>A | GRCh38 |
| NC_000020.10:g.49574890G>A , CM000682.1:g.49574890G>A | GRCh37 |
| NC_000020.9:g.49008297G>A | NCBI36 |
| NG_008923.1:g.5171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.161+10C>T | ENSP00000360640.5:n.161+10C>T | |
| ENST00000681979.1:n.55+10C>T | ||
| ENST00000682754.1:n.159+10C>T | ||
| ENST00000683048.1:c.161+10C>T | ENSP00000506986.1:n.161+10C>T | |
| ENST00000683466.1:c.-155+388C>T | ENSP00000507404.1:n.-155+388C>T | |
| ENST00000684628.1:n.170+10C>T | ||
| ENST00000684708.1:n.90+10C>T | ||
| ENST00000371588.10:c.161+10C>T MANE Select | ENSP00000360644.5:n.161+10C>T | |
| ENST00000371582.8:c.161+10C>T | ENSP00000360638.4:n.161+10C>T | |
| ENST00000371584.8:c.159+10C>T | ||
| ENST00000371588.9:c.161+10C>T | ENSP00000360644.5:n.161+10C>T | |
| ENST00000413082.1:c.161+10C>T | ENSP00000394921.1:n.161+10C>T | |
| ENST00000466152.5:n.188+10C>T | ||
| NM_001317034.1:c.161+10C>T | NP_001303963.1:n.161+10C>T | |
| NM_001317035.1:c.161+10C>T | NP_001303964.1:n.161+10C>T | |
| NM_001317036.1:c.161+10C>T | NP_001303965.1:n.161+10C>T | |
| NM_003859.1:c.161+10C>T | NP_003850.1:n.161+10C>T | |
| NM_003859.2:c.161+10C>T | NP_003850.1:n.161+10C>T | |
| NR_133648.1:n.202+10C>T | ||
| XM_011529093.1:c.161+10C>T | XP_011527395.1:n.161+10C>T | |
| XM_011529094.1:c.161+10C>T | XP_011527396.1:n.161+10C>T | |
| XR_002958550.1:n.199+10C>T | ||
| XR_002958551.1:n.200+10C>T | ||
| NM_003859.3:c.161+10C>T MANE Select | NP_003850.1:n.161+10C>T | |
| NR_133648.2:n.170+10C>T |