Linked Data
ClinVar Variation Id:
1307
dbSNP Id:
rs121909390
gnomAD v2:
20-3210076-G-A
gnomAD v3:
20-3229430-G-A
gnomAD v4:
20-3229430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3229430G>A , CM000682.2:g.3229430G>A | GRCh38 |
| NC_000020.10:g.3210076G>A , CM000682.1:g.3210076G>A | GRCh37 |
| NC_000020.9:g.3158076G>A | NCBI36 |
| NG_017072.1:g.14812C>T | |
| NG_012093.2:g.25564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.1765C>T MANE Select | ENSP00000493503.1:p.Arg589Ter | |
| ENST00000644011.1:c.1696C>T | ENSP00000496214.1:p.Arg566Ter | |
| ENST00000644692.1:c.1636C>T | ENSP00000493824.1:p.Arg546Ter | |
| ENST00000647296.1:c.1651C>T | ENSP00000495050.1:p.Arg551Ter | |
| ENST00000380056.7:c.1813C>T | ENSP00000369396.3:p.Arg605Ter | |
| ENST00000380059.7:c.1894C>T | ENSP00000369399.3:p.Arg632Ter | |
| ENST00000474451.5:c.1638C>T | ENSP00000476859.1:p.Cys546= | |
| ENST00000488544.1:n.276C>T | ||
| ENST00000539553.6:c.1765C>T | ENSP00000441370.1:p.Arg589Ter | |
| NM_001174089.1:c.1765C>T | NP_001167560.1:p.Arg589Ter | |
| NM_001174090.1:c.1894C>T | NP_001167561.1:p.Arg632Ter | |
| NM_032034.3:c.1813C>T | NP_114423.1:p.Arg605Ter | |
| XM_005260856.3:c.2134C>T | XP_005260913.1:p.Arg712Ter | |
| XM_005260857.1:c.1708C>T | XP_005260914.1:p.Arg570Ter | |
| XM_011529383.1:c.1732C>T | XP_011527685.1:p.Arg578Ter | |
| XM_011529384.1:c.1708C>T | XP_011527686.1:p.Arg570Ter | |
| XM_011529385.1:c.1708C>T | XP_011527687.1:p.Arg570Ter | |
| XM_011529386.1:c.2178C>T | XP_011527688.1:p.Cys726= | |
| XR_937167.1:n.1863C>T | ||
| NM_001363745.1:c.1651C>T | NP_001350674.1:p.Arg551Ter | |
| NR_135000.1:n.1863C>T | ||
| XM_005260856.5:c.2134C>T | XP_005260913.1:p.Arg712Ter | |
| XM_011529383.3:c.1732C>T | XP_011527685.1:p.Arg578Ter | |
| XM_017028093.1:c.2178C>T | XP_016883582.1:p.Cys726= | |
| XM_017028094.1:c.1708C>T | XP_016883583.1:p.Arg570Ter | |
| XM_017028096.1:c.1708C>T | XP_016883585.1:p.Arg570Ter | |
| XR_001754419.1:n.2358C>T | ||
| XR_001754420.2:n.2288C>T | ||
| NM_001174089.2:c.1765C>T MANE Select | NP_001167560.1:p.Arg589Ter | |
| NM_001363745.2:c.1651C>T | NP_001350674.1:p.Arg551Ter | |
| NM_001174090.2:c.1894C>T | NP_001167561.1:p.Arg632Ter | |
| NM_032034.4:c.1813C>T | NP_114423.1:p.Arg605Ter | |
| NM_001400277.1:c.1708C>T | NP_001387206.1:p.Arg570Ter | |
| NM_001400278.1:c.1708C>T | NP_001387207.1:p.Arg570Ter | |
| NM_001400279.1:c.1708C>T | NP_001387208.1:p.Arg570Ter | |
| NM_001400280.1:c.1780C>T | NP_001387209.1:p.Arg594Ter | |
| NR_174470.1:n.2338C>T | ||
| NR_174471.1:n.2323C>T |