Linked Data
ClinVar Variation Id:
39595
ClinVar RCV Id:
RCV000032795
RCV000414268
RCV000546032
RCV000624507
RCV001253027
RCV002274887
RCV003390714
RCV004018702
dbSNP Id:
rs397515404
gnomAD v3:
9-135768848-G-A
gnomAD v4:
9-135768848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135768848G>A , CM000671.2:g.135768848G>A | GRCh38 |
| NC_000009.11:g.138660694G>A , CM000671.1:g.138660694G>A | GRCh37 |
| NC_000009.10:g.137800515G>A | NCBI36 |
| NG_033070.1:g.71664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1421G>A MANE Select | ENSP00000360822.2:p.Arg474His | |
| ENST00000636003.1:c.159G>A | ||
| ENST00000674572.1:c.1262G>A | ENSP00000501742.1:p.Arg421His | |
| ENST00000675090.1:c.1169G>A | ENSP00000501833.1:p.Arg390His | |
| ENST00000675399.1:c.1169G>A | ENSP00000501932.1:p.Arg390His | |
| ENST00000676421.1:c.1178G>A | ENSP00000502322.1:p.Arg393His | |
| ENST00000263604.5:c.1322G>A | ENSP00000263604.4:p.Arg441His | |
| ENST00000371757.6:c.1421G>A | ENSP00000360822.2:p.Arg474His | |
| ENST00000460750.5:c.*1031G>A | ENSP00000418777.1:n.*1031G>A | |
| ENST00000486577.6:c.1304G>A | ENSP00000417578.3:p.Arg435His | |
| ENST00000487664.5:c.1421G>A | ENSP00000417851.2:p.Arg474His | |
| ENST00000488444.6:c.1364G>A | ENSP00000419007.3:p.Arg455His | |
| ENST00000490355.6:c.1364G>A | ENSP00000418003.3:p.Arg455His | |
| ENST00000490363.3:n.1240G>A | ||
| ENST00000491806.6:c.1364G>A | ENSP00000419086.3:p.Arg455His | |
| ENST00000628528.2:c.1286G>A | ENSP00000486374.1:p.Arg429His | |
| ENST00000630792.2:c.1262G>A | ENSP00000486486.1:p.Arg421His | |
| ENST00000631073.2:c.1364G>A | ENSP00000486130.1:p.Arg455His | |
| NM_001272003.1:c.1286G>A | NP_001258932.1:p.Arg429His | |
| NM_020822.2:c.1421G>A | NP_065873.2:p.Arg474His | |
| XM_011518877.1:c.1556G>A | XP_011517179.1:p.Arg519His | |
| XM_011518878.1:c.1565G>A | XP_011517180.1:p.Arg522His | |
| XM_011518879.1:c.1556G>A | XP_011517181.1:p.Arg519His | |
| XM_011518880.1:c.1322G>A | XP_011517182.1:p.Arg441His | |
| XM_011518881.1:c.911G>A | XP_011517183.1:p.Arg304His | |
| XM_011518877.3:c.1556G>A | XP_011517179.1:p.Arg519His | |
| XM_011518878.3:c.1565G>A | XP_011517180.1:p.Arg522His | |
| XM_011518879.3:c.1556G>A | XP_011517181.1:p.Arg519His | |
| XM_011518881.3:c.911G>A | XP_011517183.1:p.Arg304His | |
| XM_017014931.1:c.1355G>A | XP_016870420.1:p.Arg452His | |
| XM_017014932.1:c.1178G>A | XP_016870421.1:p.Arg393His | |
| XM_017014933.1:c.911G>A | XP_016870422.1:p.Arg304His | |
| XM_024447617.1:c.911G>A | XP_024303385.1:p.Arg304His | |
| XM_024447618.1:c.911G>A | XP_024303386.1:p.Arg304His | |
| NM_020822.3:c.1421G>A MANE Select | NP_065873.2:p.Arg474His | |
| NM_001272003.2:c.1286G>A | NP_001258932.1:p.Arg429His |