Linked Data
ClinVar Variation Id:
45645
ClinVar RCV Id:
RCV000038863
dbSNP Id:
rs397517255
gnomAD v3:
9-114424483-G-A
gnomAD v4:
9-114424483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114424483G>A , CM000671.2:g.114424483G>A | GRCh38 |
| NC_000009.11:g.117186763G>A , CM000671.1:g.117186763G>A | GRCh37 |
| NC_000009.10:g.116226584G>A | NCBI36 |
| NG_016700.1:g.85974C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699486.1:c.991C>T | ENSP00000514397.1:p.Arg331Ter | |
| ENST00000362057.4:c.1267C>T MANE Select | ENSP00000354623.3:p.Arg423Ter | |
| ENST00000673811.1:n.2201C>T | ||
| ENST00000674036.8:c.450C>T | ||
| ENST00000674048.1:n.1148C>T | ||
| ENST00000265134.10:c.118C>T | ENSP00000265134.6:p.Arg40Ter | |
| ENST00000362057.3:c.1267C>T | ENSP00000354623.3:p.Arg423Ter | |
| ENST00000374059.7:c.214C>T | ENSP00000363172.3:p.Arg72Ter | |
| NM_001083885.2:c.118C>T | NP_001077354.2:p.Arg40Ter | |
| NM_001173425.1:c.1267C>T | NP_001166896.1:p.Arg423Ter | |
| NM_015404.3:c.1267C>T | NP_056219.3:p.Arg423Ter | |
| XM_005251897.3:c.964-16465C>T | XP_005251954.2:n.964-16465C>T | |
| XM_011518484.1:c.1267C>T | XP_011516786.1:p.Arg423Ter | |
| XM_011518485.1:c.1267C>T | XP_011516787.1:p.Arg423Ter | |
| XM_011518486.1:c.1267C>T | XP_011516788.1:p.Arg423Ter | |
| XM_011518487.1:c.1141C>T | XP_011516789.1:p.Arg381Ter | |
| XM_011518488.1:c.1267C>T | XP_011516790.1:p.Arg423Ter | |
| XM_011518489.1:c.1267C>T | XP_011516791.1:p.Arg423Ter | |
| XM_011518490.1:c.1267C>T | XP_011516792.1:p.Arg423Ter | |
| XM_011518491.1:c.1267C>T | XP_011516793.1:p.Arg423Ter | |
| XM_011518492.1:c.1267C>T | XP_011516794.1:p.Arg423Ter | |
| XM_011518493.1:c.1267C>T | XP_011516795.1:p.Arg423Ter | |
| XM_011518494.1:c.1267C>T | XP_011516796.1:p.Arg423Ter | |
| XM_011518495.1:c.-57C>T | XP_011516797.1:n.-57C>T | |
| XR_929747.1:n.1975C>T | ||
| XR_929748.1:n.1975C>T | ||
| XR_929749.1:n.1975C>T | ||
| XR_929750.1:n.1975C>T | ||
| XR_929751.1:n.1975C>T | ||
| XR_929752.1:n.1975C>T | ||
| XR_929753.1:n.1975C>T | ||
| XR_929754.1:n.1975C>T | ||
| XR_929755.1:n.1975C>T | ||
| XR_929756.1:n.1975C>T | ||
| XR_929757.1:n.1975C>T | ||
| NM_001346890.1:c.214C>T | NP_001333819.1:p.Arg72Ter | |
| XM_011518486.2:c.1267C>T | XP_011516788.1:p.Arg423Ter | |
| XM_011518487.2:c.1141C>T | XP_011516789.1:p.Arg381Ter | |
| XM_011518488.2:c.1267C>T | XP_011516790.1:p.Arg423Ter | |
| XM_011518489.3:c.1267C>T | XP_011516791.1:p.Arg423Ter | |
| XM_011518491.3:c.1267C>T | XP_011516793.1:p.Arg423Ter | |
| XM_011518492.2:c.1267C>T | XP_011516794.1:p.Arg423Ter | |
| XM_011518494.3:c.1267C>T | XP_011516796.1:p.Arg423Ter | |
| XR_929747.2:n.1286C>T | ||
| XR_929748.2:n.1286C>T | ||
| XR_929749.2:n.1286C>T | ||
| XR_929750.3:n.1286C>T | ||
| XR_929752.2:n.1286C>T | ||
| XR_929753.3:n.1286C>T | ||
| XR_929754.2:n.1286C>T | ||
| XR_929755.3:n.1286C>T | ||
| XR_929756.2:n.1286C>T | ||
| XR_929757.2:n.1286C>T | ||
| NM_015404.4:c.1267C>T MANE Select | NP_056219.3:p.Arg423Ter | |
| NM_001173425.2:c.1267C>T | NP_001166896.1:p.Arg423Ter | |
| NM_001083885.3:c.118C>T | NP_001077354.2:p.Arg40Ter |