Linked Data
ClinVar Variation Id:
13926
dbSNP Id:
rs80236571
gnomAD v4:
10-43106497-G-A
PubMed:
PMID:8114939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106497G>A , CM000672.2:g.43106497G>A | GRCh38 |
| NC_000010.10:g.43601945G>A , CM000672.1:g.43601945G>A | GRCh37 |
| NC_000010.9:g.42921951G>A | NCBI36 |
| NG_007489.1:g.34429G>A , LRG_518:g.34429G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1304G>A | ENSP00000480088.2:n.867+1304G>A | |
| ENST00000683007.1:n.563G>A | ||
| ENST00000340058.6:c.989G>A | ENSP00000344798.4:p.Arg330Gln | |
| ENST00000355710.8:c.989G>A MANE Select | ENSP00000347942.3:p.Arg330Gln | |
| ENST00000671844.1:c.625+3868G>A | ENSP00000500541.1:n.625+3868G>A | |
| ENST00000672389.1:c.74-4710G>A | ENSP00000500252.1:n.74-4710G>A | |
| ENST00000340058.5:c.989G>A | ENSP00000344798.4:p.Arg330Gln | |
| ENST00000355710.7:c.989G>A | ENSP00000347942.3:p.Arg330Gln | |
| ENST00000498820.5:c.74-5602G>A | ENSP00000419080.1:n.74-5602G>A | |
| ENST00000615310.4:c.989G>A | ENSP00000480088.1:p.Arg330Gln | |
| NM_020630.4:c.989G>A , LRG_518t2:c.989G>A | NP_065681.1:p.Arg330Gln | |
| NM_020975.4:c.989G>A , LRG_518t1:c.989G>A | NP_066124.1:p.Arg330Gln | |
| XM_011540027.1:c.989G>A | XP_011538329.1:p.Arg330Gln | |
| NM_001355216.1:c.227G>A | NP_001342145.1:p.Arg76Gln | |
| NM_020630.5:c.989G>A | NP_065681.1:p.Arg330Gln | |
| NM_020975.5:c.989G>A | NP_066124.1:p.Arg330Gln | |
| NM_020975.6:c.989G>A MANE Select | NP_066124.1:p.Arg330Gln | |
| NM_020630.6:c.989G>A | NP_065681.1:p.Arg330Gln |