Linked Data
ClinVar Variation Id:
187633
ClinVar RCV Id:
RCV000167379
RCV000412279
RCV000409423
RCV000588404
RCV001030587
RCV002295286
RCV003153459
RCV002505216
dbSNP Id:
rs200857129
ExAC:
17:56780620 G / A
gnomAD v2:
17-56780620-G-A
gnomAD v3:
17-58703259-G-A
gnomAD v4:
17-58703259-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703259G>A , CM000679.2:g.58703259G>A | GRCh38 |
| NC_000017.10:g.56780620G>A , CM000679.1:g.56780620G>A | GRCh37 |
| NC_000017.9:g.54135619G>A | NCBI36 |
| NG_023199.1:g.15658G>A , LRG_314:g.15658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.284G>A | ENSP00000464056.2:p.Arg95His | |
| ENST00000697677.1:n.1716G>A | ||
| ENST00000697678.1:n.537G>A | ||
| ENST00000697679.1:n.1709G>A | ||
| ENST00000697680.1:c.*1499G>A | ENSP00000513392.1:n.*1499G>A | |
| ENST00000697681.1:c.*1651G>A | ENSP00000513393.1:n.*1651G>A | |
| ENST00000697683.1:c.*1499G>A | ENSP00000513395.1:n.*1499G>A | |
| ENST00000697684.1:n.695G>A | ||
| ENST00000697685.1:c.*1332G>A | ENSP00000513396.1:n.*1332G>A | |
| ENST00000697686.1:c.284G>A | ENSP00000513397.1:p.Arg95His | |
| ENST00000697687.1:n.514G>A | ||
| ENST00000697688.1:n.681G>A | ||
| ENST00000697689.1:c.*1171G>A | ENSP00000513398.1:n.*1171G>A | |
| ENST00000697690.1:c.635G>A | ENSP00000513399.1:p.Arg212His | |
| ENST00000697691.1:c.*607G>A | ENSP00000513400.1:n.*607G>A | |
| ENST00000697692.1:c.*647G>A | ENSP00000513401.1:n.*647G>A | |
| ENST00000697694.1:c.284G>A | ENSP00000513402.1:p.Arg95His | |
| ENST00000697695.1:n.1242G>A | ||
| ENST00000337432.9:c.635G>A MANE Select | ENSP00000336701.4:p.Arg212His | |
| ENST00000337432.8:c.635G>A | ENSP00000336701.4:p.Arg212His | |
| ENST00000413590.5:c.273G>A | ||
| ENST00000425173.5:c.431G>A | ENSP00000407282.1:p.Arg144His | |
| ENST00000461271.5:c.284G>A | ENSP00000464056.1:p.Arg95His | |
| ENST00000475762.5:c.*1338G>A | ENSP00000432421.1:n.*1338G>A | |
| ENST00000482007.5:c.*63G>A | ENSP00000433332.1:n.*63G>A | |
| ENST00000487525.5:c.*63G>A | ENSP00000431637.1:n.*63G>A | |
| ENST00000487921.5:n.547G>A | ||
| ENST00000583539.5:c.635G>A | ENSP00000463121.1:p.Arg212His | |
| ENST00000584617.5:c.357G>A | ||
| NM_058216.2:c.635G>A | NP_478123.1:p.Arg212His | |
| NR_103872.1:n.539G>A | ||
| XM_006722001.2:c.635G>A | XP_006722064.1:p.Arg212His | |
| XM_006722002.2:c.635G>A | XP_006722065.1:p.Arg212His | |
| XM_006722004.2:c.284G>A | XP_006722067.1:p.Arg95His | |
| XM_006722005.2:c.284G>A | XP_006722068.1:p.Arg95His | |
| XM_011525092.1:c.284G>A | XP_011523394.1:p.Arg95His | |
| XM_011525093.1:c.284G>A | XP_011523395.1:p.Arg95His | |
| XM_011525094.1:c.284G>A | XP_011523396.1:p.Arg95His | |
| XR_934513.1:n.708G>A | ||
| XR_934514.1:n.708G>A | ||
| XM_006722001.4:c.635G>A | XP_006722064.1:p.Arg212His | |
| XM_006722002.4:c.635G>A | XP_006722065.1:p.Arg212His | |
| XM_006722004.3:c.284G>A | XP_006722067.1:p.Arg95His | |
| XM_006722005.3:c.284G>A | XP_006722068.1:p.Arg95His | |
| XM_011525092.2:c.284G>A | XP_011523394.1:p.Arg95His | |
| XM_011525093.2:c.284G>A | XP_011523395.1:p.Arg95His | |
| XM_011525094.2:c.284G>A | XP_011523396.1:p.Arg95His | |
| XM_017024914.1:c.284G>A | XP_016880403.1:p.Arg95His | |
| XM_017024915.1:c.284G>A | XP_016880404.1:p.Arg95His | |
| XM_017024916.1:c.284G>A | XP_016880405.1:p.Arg95His | |
| XM_017024917.1:c.284G>A | XP_016880406.1:p.Arg95His | |
| XM_017024918.2:c.284G>A | XP_016880407.1:p.Arg95His | |
| XM_017024919.1:c.284G>A | XP_016880408.1:p.Arg95His | |
| XR_934513.3:n.1139G>A | ||
| XR_934514.3:n.1139G>A | ||
| NM_058216.3:c.635G>A MANE Select | NP_478123.1:p.Arg212His | |
| NR_103872.2:n.510G>A |