Linked Data
ClinVar Variation Id:
409972
dbSNP Id:
rs557289756
ExAC:
1:2234833 G / A
gnomAD v2:
1-2234833-G-A
gnomAD v3:
1-2303394-G-A
gnomAD v4:
1-2303394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2303394G>A , CM000663.2:g.2303394G>A | GRCh38 |
| NC_000001.10:g.2234833G>A , CM000663.1:g.2234833G>A | GRCh37 |
| NC_000001.9:g.2224693G>A | NCBI36 |
| NG_013084.1:g.79700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.373G>A | ||
| ENST00000378536.5:c.1205G>A MANE Select | ENSP00000367797.4:p.Arg402Gln | |
| ENST00000378536.4:c.1205G>A | ENSP00000367797.4:p.Arg402Gln | |
| NM_003036.3:c.1205G>A | NP_003027.1:p.Arg402Gln | |
| XM_005244775.2:c.1205G>A | XP_005244832.1:p.Arg402Gln | |
| XM_005244776.3:c.335G>A | XP_005244833.1:p.Arg112Gln | |
| XM_005244775.3:c.1205G>A | XP_005244832.1:p.Arg402Gln | |
| XM_005244776.4:c.335G>A | XP_005244833.1:p.Arg112Gln | |
| XM_017002128.1:c.713G>A | XP_016857617.1:p.Arg238Gln | |
| NM_003036.4:c.1205G>A MANE Select | NP_003027.1:p.Arg402Gln |