Linked Data
ClinVar Variation Id:
1363478
ClinVar RCV Id:
RCV001902281
dbSNP Id:
rs149935445
ExAC:
16:28997735 G / A
gnomAD v2:
16-28997735-G-A
gnomAD v3:
16-28986414-G-A
gnomAD v4:
16-28986414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28986414G>A , CM000678.2:g.28986414G>A | GRCh38 |
| NC_000016.9:g.28997735G>A , CM000678.1:g.28997735G>A | GRCh37 |
| NC_000016.8:g.28905236G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.531G>A | ||
| ENST00000354453.7:n.616-16G>A | ||
| ENST00000395456.7:c.278G>A MANE Select | ENSP00000378841.3:p.Arg93Gln | |
| ENST00000360872.9:c.278G>A | ENSP00000354119.5:p.Arg93Gln | |
| ENST00000395456.6:c.278G>A | ENSP00000378841.2:p.Arg93Gln | |
| ENST00000395461.7:c.386G>A | ENSP00000378845.3:p.Arg129Gln | |
| ENST00000454369.6:c.275G>A | ENSP00000398793.2:p.Arg92Gln | |
| ENST00000562701.5:c.305G>A | ENSP00000454793.1:n.305G>A | |
| ENST00000563964.5:n.545G>A | ||
| ENST00000564277.5:c.275G>A | ENSP00000457036.1:p.Arg92Gln | |
| ENST00000566177.5:c.275G>A | ENSP00000456761.1:p.Arg92Gln | |
| ENST00000568440.1:n.316G>A | ||
| ENST00000568899.5:n.162G>A | ||
| ENST00000570232.2:c.38G>A | ENSP00000455728.1:p.Arg13Gln | |
| NM_001014987.1:c.278G>A | NP_001014987.1:p.Arg93Gln | |
| NM_001014988.1:c.275G>A | NP_001014988.1:p.Arg92Gln | |
| NM_001014989.1:c.386G>A | NP_001014989.2:p.Arg129Gln | |
| NM_014387.3:c.278G>A | NP_055202.1:p.Arg93Gln | |
| NM_001014987.2:c.278G>A MANE Select | NP_001014987.1:p.Arg93Gln | |
| NM_001014988.2:c.275G>A | NP_001014988.1:p.Arg92Gln | |
| NM_001014989.2:c.386G>A | NP_001014989.2:p.Arg129Gln | |
| NM_014387.4:c.278G>A | NP_055202.1:p.Arg93Gln |