Linked Data
ClinVar Variation Id:
220536
ClinVar RCV Id:
RCV000205028
dbSNP Id:
rs864622571
gnomAD v2:
5-131953890-G-A
gnomAD v3:
5-132618198-G-A
gnomAD v4:
5-132618198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618198G>A , CM000667.2:g.132618198G>A | GRCh38 |
| NC_000005.9:g.131953890G>A , CM000667.1:g.131953890G>A | GRCh37 |
| NC_000005.8:g.131981789G>A | NCBI36 |
| NG_021151.1:g.66275G>A | |
| NG_021151.2:g.66222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3293G>A MANE Select | ENSP00000368100.4:p.Arg1098Gln | |
| ENST00000638452.2:c.2996G>A | ENSP00000492349.2:p.Arg999Gln | |
| ENST00000638504.1:n.2901G>A | ||
| ENST00000638568.2:c.2996G>A | ENSP00000491158.2:p.Arg999Gln | |
| ENST00000639899.1:n.3812G>A | ||
| ENST00000640655.2:c.2996G>A | ENSP00000491596.2:p.Arg999Gln | |
| ENST00000651249.1:c.129G>A | ||
| ENST00000378823.7:c.3293G>A | ENSP00000368100.4:p.Arg1098Gln | |
| ENST00000533482.5:c.*2919G>A | ENSP00000431225.1:n.*2919G>A | |
| NM_005732.3:c.3293G>A | NP_005723.2:p.Arg1098Gln | |
| NM_005732.4:c.3293G>A MANE Select | NP_005723.2:p.Arg1098Gln |