Linked Data
ClinVar Variation Id:
1389161
ClinVar RCV Id:
RCV001878155
dbSNP Id:
rs759452317
ExAC:
1:983255 A / G
gnomAD v2:
1-983255-A-G
gnomAD v3:
1-1047875-A-G
gnomAD v4:
1-1047875-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047875A>G , CM000663.2:g.1047875A>G | GRCh38 |
| NC_000001.10:g.983255A>G , CM000663.1:g.983255A>G | GRCh37 |
| NC_000001.9:g.973118A>G | NCBI36 |
| NG_016346.1:g.32753A>G , LRG_198:g.32753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3731A>G MANE Select | ENSP00000368678.2:p.His1244Arg | |
| ENST00000651234.1:c.3416A>G | ENSP00000499046.1:p.His1139Arg | |
| ENST00000652369.1:c.3416A>G | ENSP00000498543.1:p.His1139Arg | |
| ENST00000379370.6:c.3731A>G | ENSP00000368678.2:p.His1244Arg | |
| ENST00000620552.4:c.3317A>G | ENSP00000484607.1:p.His1106Arg | |
| NM_001305275.1:c.3731A>G | NP_001292204.1:p.His1244Arg | |
| NM_198576.3:c.3731A>G | NP_940978.2:p.His1244Arg | |
| XM_005244749.2:c.3731A>G | XP_005244806.1:p.His1244Arg | |
| XM_006710635.2:c.3731A>G | XP_006710698.1:p.His1244Arg | |
| XM_011541429.1:c.3731A>G | XP_011539731.1:p.His1244Arg | |
| XM_011541430.1:c.2858A>G | XP_011539732.1:p.His953Arg | |
| XM_011541431.1:c.1997A>G | XP_011539733.1:p.His666Arg | |
| XR_946650.1:n.3798A>G | ||
| NM_001364727.1:c.3416A>G | NP_001351656.1:p.His1139Arg | |
| XM_005244749.3:c.3731A>G | XP_005244806.1:p.His1244Arg | |
| XM_011541429.2:c.3731A>G | XP_011539731.1:p.His1244Arg | |
| XR_946650.2:n.3802A>G | ||
| NM_001305275.2:c.3731A>G | NP_001292204.1:p.His1244Arg | |
| NM_198576.4:c.3731A>G MANE Select | NP_940978.2:p.His1244Arg | |
| NM_001364727.2:c.3416A>G | NP_001351656.1:p.His1139Arg |