Linked Data
ClinVar Variation Id:
1652839
ClinVar RCV Id:
RCV002158553
dbSNP Id:
rs199523352
ExAC:
1:231401098 C / A
gnomAD v2:
1-231401098-C-A
gnomAD v3:
1-231265352-C-A
gnomAD v4:
1-231265352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265352C>A , CM000663.2:g.231265352C>A | GRCh38 |
| NC_000001.10:g.231401098C>A , CM000663.1:g.231401098C>A | GRCh37 |
| NC_000001.9:g.229467721C>A | NCBI36 |
| NG_008240.1:g.29180C>A | |
| NG_008240.2:g.29180C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.628C>A MANE Select | ENSP00000355607.4:p.Arg210= | |
| ENST00000644483.1:c.*314C>A | ENSP00000496537.1:n.*314C>A | |
| ENST00000366647.8:c.628C>A | ENSP00000355607.4:p.Arg210= | |
| ENST00000416000.1:c.598C>A | ENSP00000411640.1:p.Arg200= | |
| ENST00000436239.5:c.445C>A | ENSP00000402811.1:p.Arg149= | |
| NM_001316350.1:c.445C>A | NP_001303279.1:p.Arg149= | |
| NM_014236.3:c.628C>A | NP_055051.1:p.Arg210= | |
| XM_005273313.3:c.625C>A | XP_005273370.1:p.Arg209= | |
| XM_011544303.1:c.301C>A | XP_011542605.1:p.Arg101= | |
| XM_011544304.1:c.301C>A | XP_011542606.1:p.Arg101= | |
| XM_005273313.4:c.625C>A | XP_005273370.1:p.Arg209= | |
| XM_011544303.3:c.301C>A | XP_011542605.1:p.Arg101= | |
| XM_011544304.2:c.301C>A | XP_011542606.1:p.Arg101= | |
| NM_014236.4:c.628C>A MANE Select | NP_055051.1:p.Arg210= | |
| NM_001316350.2:c.445C>A | NP_001303279.1:p.Arg149= |