Linked Data
ClinVar Variation Id:
2062377
ClinVar RCV Id:
RCV002953395
dbSNP Id:
rs1476141378
gnomAD v2:
1-983605-G-A
gnomAD v3:
1-1048225-G-A
gnomAD v4:
1-1048225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048225G>A , CM000663.2:g.1048225G>A | GRCh38 |
| NC_000001.10:g.983605G>A , CM000663.1:g.983605G>A | GRCh37 |
| NC_000001.9:g.973468G>A | NCBI36 |
| NG_016346.1:g.33103G>A , LRG_198:g.33103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3965G>A MANE Select | ENSP00000368678.2:p.Arg1322Gln | |
| ENST00000651234.1:c.3650G>A | ENSP00000499046.1:p.Arg1217Gln | |
| ENST00000652369.1:c.3650G>A | ENSP00000498543.1:p.Arg1217Gln | |
| ENST00000379370.6:c.3965G>A | ENSP00000368678.2:p.Arg1322Gln | |
| ENST00000620552.4:c.3551G>A | ENSP00000484607.1:p.Arg1184Gln | |
| NM_001305275.1:c.3965G>A | NP_001292204.1:p.Arg1322Gln | |
| NM_198576.3:c.3965G>A | NP_940978.2:p.Arg1322Gln | |
| XM_005244749.2:c.3965G>A | XP_005244806.1:p.Arg1322Gln | |
| XM_006710635.2:c.3965G>A | XP_006710698.1:p.Arg1322Gln | |
| XM_011541429.1:c.3965G>A | XP_011539731.1:p.Arg1322Gln | |
| XM_011541430.1:c.3092G>A | XP_011539732.1:p.Arg1031Gln | |
| XM_011541431.1:c.2231G>A | XP_011539733.1:p.Arg744Gln | |
| XR_946650.1:n.4032G>A | ||
| NM_001364727.1:c.3650G>A | NP_001351656.1:p.Arg1217Gln | |
| XM_005244749.3:c.3965G>A | XP_005244806.1:p.Arg1322Gln | |
| XM_011541429.2:c.3965G>A | XP_011539731.1:p.Arg1322Gln | |
| XR_946650.2:n.4036G>A | ||
| NM_001305275.2:c.3965G>A | NP_001292204.1:p.Arg1322Gln | |
| NM_198576.4:c.3965G>A MANE Select | NP_940978.2:p.Arg1322Gln | |
| NM_001364727.2:c.3650G>A | NP_001351656.1:p.Arg1217Gln |