Linked Data
ClinVar Variation Id:
1113555
ClinVar RCV Id:
RCV001440974
dbSNP Id:
rs770495227
ExAC:
1:179521804 C / T
gnomAD v4:
1-179552669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179552669C>T , CM000663.2:g.179552669C>T | GRCh38 |
| NC_000001.10:g.179521804C>T , CM000663.1:g.179521804C>T | GRCh37 |
| NC_000001.9:g.177788427C>T | NCBI36 |
| NG_007535.1:g.28281G>A , LRG_887:g.28281G>A | |
| NG_033075.1:g.191950C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367615.9:c.807G>A (NPHS2) MANE Select | ENSP00000356587.4:p.Arg269= | |
| ENST00000367618.8:c.3032-1843C>T (AXDND1) MANE Select | ENSP00000356590.3:n.3032-1843C>T | |
| ENST00000367615.8:c.807G>A (NPHS2) | ENSP00000356587.4:p.Arg269= | |
| ENST00000367616.4:c.603G>A (NPHS2) | ENSP00000356588.4:p.Arg201= | |
| ENST00000367618.7:c.3032-1843C>T (AXDND1) | ENSP00000356590.3:n.3032-1843C>T | |
| ENST00000434088.1:c.2612-1843C>T (AXDND1) | ENSP00000391716.1:n.2612-1843C>T | |
| ENST00000457238.6:c.*1011-1843C>T (AXDND1) | ENSP00000416712.3:n.*1011-1843C>T | |
| ENST00000484455.1:n.471-1843C>T (AXDND1) | ||
| ENST00000484883.1:n.911-1843C>T (AXDND1) | ||
| ENST00000489080.1:n.1603C>T (AXDND1) | ||
| ENST00000511157.5:c.*1301-1843C>T (AXDND1) | ENSP00000424373.1:n.*1301-1843C>T | |
| ENST00000617277.4:c.*1207-1843C>T (AXDND1) | ENSP00000482167.1:n.*1207-1843C>T | |
| NM_001297575.1:c.603G>A (NPHS2) | NP_001284504.1:p.Arg201= | |
| NM_014625.3:c.807G>A , LRG_887t1:c.807G>A (NPHS2) | NP_055440.1:p.Arg269= | |
| NM_144696.5:c.3032-1843C>T (AXDND1) | NP_653297.3:n.3032-1843C>T | |
| NR_073544.1:n.3152-1843C>T (AXDND1) | ||
| XM_005245483.2:c.630G>A (NPHS2) | XP_005245540.1:p.Arg210= | |
| XM_006711529.2:c.807G>A (NPHS2) | XP_006711592.1:p.Arg269= | |
| XM_011509165.1:c.3038-1843C>T (AXDND1) | XP_011507467.1:n.3038-1843C>T | |
| XM_011509166.1:c.3038-1843C>T (AXDND1) | XP_011507468.1:n.3038-1843C>T | |
| XM_011509167.1:c.3038-1843C>T (AXDND1) | XP_011507469.1:n.3038-1843C>T | |
| XM_011509168.1:c.3038-1843C>T (AXDND1) | XP_011507470.1:n.3038-1843C>T | |
| XM_011509169.1:c.2975-1843C>T (AXDND1) | XP_011507471.1:n.2975-1843C>T | |
| XM_011509170.1:c.2930-1843C>T (AXDND1) | XP_011507472.1:n.2930-1843C>T | |
| XM_011509171.1:c.2912-1843C>T (AXDND1) | XP_011507473.1:n.2912-1843C>T | |
| XM_011509172.1:c.2912-1843C>T (AXDND1) | XP_011507474.1:n.2912-1843C>T | |
| XM_011509173.1:c.2912-1843C>T (AXDND1) | XP_011507475.1:n.2912-1843C>T | |
| XM_011509174.1:c.2816-1843C>T (AXDND1) | XP_011507476.1:n.2816-1843C>T | |
| XM_011509175.1:c.2810-1843C>T (AXDND1) | XP_011507477.1:n.2810-1843C>T | |
| XM_011509176.1:c.2741-1843C>T (AXDND1) | XP_011507478.1:n.2741-1843C>T | |
| XM_011509179.1:c.2402-1843C>T (AXDND1) | XP_011507481.1:n.2402-1843C>T | |
| XM_011509181.1:c.1961-1843C>T (AXDND1) | XP_011507483.1:n.1961-1843C>T | |
| XM_005245483.3:c.630G>A (NPHS2) | XP_005245540.1:p.Arg210= | |
| XM_011509166.3:c.3038-1843C>T (AXDND1) | XP_011507468.1:n.3038-1843C>T | |
| XM_011509167.3:c.3038-1843C>T (AXDND1) | XP_011507469.1:n.3038-1843C>T | |
| XM_011509179.2:c.2402-1843C>T (AXDND1) | XP_011507481.1:n.2402-1843C>T | |
| XM_011509181.2:c.1961-1843C>T (AXDND1) | XP_011507483.1:n.1961-1843C>T | |
| XM_017000257.2:c.2297-1843C>T (AXDND1) | XP_016855746.1:n.2297-1843C>T | |
| XM_017000258.2:c.2159-1843C>T (AXDND1) | XP_016855747.1:n.2159-1843C>T | |
| XM_017002298.1:c.474G>A (NPHS2) | XP_016857787.1:p.Arg158= | |
| XM_017002299.1:c.*10G>A (NPHS2) | XP_016857788.1:n.*10G>A | |
| XM_024453104.1:c.2912-1843C>T (AXDND1) | XP_024308872.1:n.2912-1843C>T | |
| XM_024453107.1:c.2912-1843C>T (AXDND1) | XP_024308875.1:n.2912-1843C>T | |
| NM_144696.6:c.3032-1843C>T (AXDND1) MANE Select | NP_653297.3:n.3032-1843C>T | |
| NM_001297575.2:c.603G>A (NPHS2) | NP_001284504.1:p.Arg201= | |
| NM_014625.4:c.807G>A (NPHS2) MANE Select | NP_055440.1:p.Arg269= | |
| NR_073544.2:n.3080-1843C>T (AXDND1) |