Linked Data
ClinVar Variation Id:
500
ClinVar RCV Id:
RCV000000529
dbSNP Id:
rs267607013
gnomAD v4:
6-116882404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116882404G>A , CM000668.2:g.116882404G>A | GRCh38 |
| NC_000006.11:g.117203567G>A , CM000668.1:g.117203567G>A | GRCh37 |
| NC_000006.10:g.117310260G>A | NCBI36 |
| NG_027699.1:g.10192G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332958.3:c.542G>A MANE Select | ENSP00000332208.2:p.Arg181Gln | |
| ENST00000332958.2:c.542G>A | ENSP00000332208.2:p.Arg181Gln | |
| ENST00000487683.5:n.606G>A | ||
| NM_173560.3:c.542G>A | NP_775831.2:p.Arg181Gln | |
| XM_011535589.1:c.542G>A | XP_011533891.1:p.Arg181Gln | |
| XM_017010477.1:c.164G>A | XP_016865966.1:p.Arg55Gln | |
| NM_173560.4:c.542G>A MANE Select | NP_775831.2:p.Arg181Gln |