Linked Data
ClinVar Variation Id:
547973
ClinVar RCV Id:
RCV000660570
dbSNP Id:
rs764139323
ExAC:
1:983186 G / A
gnomAD v2:
1-983186-G-A
gnomAD v3:
1-1047806-G-A
gnomAD v4:
1-1047806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047806G>A , CM000663.2:g.1047806G>A | GRCh38 |
| NC_000001.10:g.983186G>A , CM000663.1:g.983186G>A | GRCh37 |
| NC_000001.9:g.973049G>A | NCBI36 |
| NG_016346.1:g.32684G>A , LRG_198:g.32684G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3662G>A MANE Select | ENSP00000368678.2:p.Arg1221Gln | |
| ENST00000651234.1:c.3347G>A | ENSP00000499046.1:p.Arg1116Gln | |
| ENST00000652369.1:c.3347G>A | ENSP00000498543.1:p.Arg1116Gln | |
| ENST00000379370.6:c.3662G>A | ENSP00000368678.2:p.Arg1221Gln | |
| ENST00000466223.1:n.400G>A | ||
| ENST00000478677.1:n.244G>A | ||
| ENST00000620552.4:c.3248G>A | ENSP00000484607.1:p.Arg1083Gln | |
| NM_001305275.1:c.3662G>A | NP_001292204.1:p.Arg1221Gln | |
| NM_198576.3:c.3662G>A | NP_940978.2:p.Arg1221Gln | |
| XM_005244749.2:c.3662G>A | XP_005244806.1:p.Arg1221Gln | |
| XM_006710635.2:c.3662G>A | XP_006710698.1:p.Arg1221Gln | |
| XM_011541429.1:c.3662G>A | XP_011539731.1:p.Arg1221Gln | |
| XM_011541430.1:c.2789G>A | XP_011539732.1:p.Arg930Gln | |
| XM_011541431.1:c.1928G>A | XP_011539733.1:p.Arg643Gln | |
| XR_946650.1:n.3729G>A | ||
| NM_001364727.1:c.3347G>A | NP_001351656.1:p.Arg1116Gln | |
| XM_005244749.3:c.3662G>A | XP_005244806.1:p.Arg1221Gln | |
| XM_011541429.2:c.3662G>A | XP_011539731.1:p.Arg1221Gln | |
| XR_946650.2:n.3733G>A | ||
| NM_001305275.2:c.3662G>A | NP_001292204.1:p.Arg1221Gln | |
| NM_198576.4:c.3662G>A MANE Select | NP_940978.2:p.Arg1221Gln | |
| NM_001364727.2:c.3347G>A | NP_001351656.1:p.Arg1116Gln |