Linked Data
ClinVar Variation Id:
540293
dbSNP Id:
rs757261515
ExAC:
1:236645810 G / A
gnomAD v2:
1-236645810-G-A
gnomAD v3:
1-236482510-G-A
gnomAD v4:
1-236482510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482510G>A , CM000663.2:g.236482510G>A | GRCh38 |
| NC_000001.10:g.236645810G>A , CM000663.1:g.236645810G>A | GRCh37 |
| NC_000001.9:g.234712433G>A | NCBI36 |
| NG_011566.1:g.93131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.509G>A MANE Select | ENSP00000335076.4:p.Arg170Gln | |
| ENST00000359362.6:c.479G>A | ENSP00000352320.4:p.Arg160Gln | |
| ENST00000637660.1:c.443G>A | ENSP00000490347.1:p.Arg148Gln | |
| ENST00000642595.1:c.236-9227G>A | ENSP00000494458.1:n.236-9227G>A | |
| ENST00000334232.8:c.509G>A | ENSP00000335076.4:p.Arg170Gln | |
| ENST00000359362.5:c.479G>A | ENSP00000352320.4:p.Arg160Gln | |
| NM_080738.3:c.479G>A | NP_542776.1:p.Arg160Gln | |
| NM_145861.2:c.509G>A | NP_665860.2:p.Arg170Gln | |
| NM_080738.4:c.479G>A | NP_542776.1:p.Arg160Gln | |
| NM_145861.4:c.509G>A MANE Select | NP_665860.2:p.Arg170Gln |