Linked Data
ClinVar Variation Id:
3160044
ClinVar RCV Id:
RCV004452946
dbSNP Id:
rs377202328
ExAC:
2:110323366 C / T
gnomAD v2:
2-110323366-C-T
gnomAD v3:
2-109565789-C-T
gnomAD v4:
2-109565789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.109565789C>T , CM000664.2:g.109565789C>T | GRCh38 |
| NC_000002.11:g.110323366C>T , CM000664.1:g.110323366C>T | GRCh37 |
| NC_000002.10:g.109680655C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397712.7:c.833G>A (SEPTIN10) MANE Select | ENSP00000380824.2:p.Arg278His | |
| ENST00000356688.8:c.833G>A (SEPTIN10) | ENSP00000349116.4:p.Arg278His | |
| ENST00000397712.6:c.833G>A (SEPTIN10) | ENSP00000380824.2:p.Arg278His | |
| ENST00000397714.6:c.764G>A (SEPTIN10) | ENSP00000380826.2:p.Arg255His | |
| ENST00000415095.5:c.833G>A (SEPTIN10) | ENSP00000396728.1:p.Arg278His | |
| ENST00000425498.1:c.*189G>A (SEPTIN10) | ENSP00000399270.1:n.*189G>A | |
| ENST00000437928.5:c.788G>A (SEPTIN10) | ENSP00000407790.1:p.Arg263His | |
| ENST00000468616.5:n.128G>A (SEPTIN10) | ||
| ENST00000483047.5:n.110G>A (SEPTIN10) | ||
| ENST00000486678.6:c.*402G>A (SEPTIN10) | ENSP00000446331.1:n.*402G>A | |
| ENST00000493445.5:c.254G>A (SEPTIN10) | ENSP00000445707.1:p.Arg85His | |
| NM_144710.3:c.833G>A (SEPTIN10) | NP_653311.1:p.Arg278His | |
| NM_178584.2:c.764G>A (SEPTIN10) | NP_848699.1:p.Arg255His | |
| NR_047585.1:n.898G>A (SEPTIN10) | ||
| XM_006712317.1:c.833G>A (SEPTIN10) | XP_006712380.1:p.Arg278His | |
| XM_011510697.1:c.833G>A (SEPTIN10) | XP_011508999.1:p.Arg278His | |
| XM_011510698.1:c.788G>A (SEPTIN10) | XP_011509000.1:p.Arg263His | |
| XM_011510699.1:c.764G>A (SEPTIN10) | XP_011509001.1:p.Arg255His | |
| XM_011510700.1:c.707G>A (SEPTIN10) | XP_011509002.1:p.Arg236His | |
| XM_011510701.1:c.434G>A (SEPTIN10) | XP_011509003.1:p.Arg145His | |
| XM_011510702.1:c.332G>A (SEPTIN10) | XP_011509004.1:p.Arg111His | |
| XM_011510703.1:c.806G>A (SEPTIN10) | XP_011509005.1:p.Arg269His | |
| XM_011510704.1:c.833G>A (SEPTIN10) | XP_011509006.1:p.Arg278His | |
| XM_011510705.1:c.332G>A (SEPTIN10) | XP_011509007.1:p.Arg111His | |
| XR_922870.1:n.1212G>A (SEPTIN10) | ||
| NM_001321496.1:c.434G>A (SEPTIN10) | NP_001308425.1:p.Arg145His | |
| NM_001321498.1:c.833G>A (SEPTIN10) | NP_001308427.1:p.Arg278His | |
| NM_001321499.1:c.332G>A (SEPTIN10) | NP_001308428.1:p.Arg111His | |
| NM_001321500.1:c.764G>A (SEPTIN10) | NP_001308429.1:p.Arg255His | |
| NM_001321501.1:c.707G>A (SEPTIN10) | NP_001308430.1:p.Arg236His | |
| NM_001321502.1:c.764G>A (SEPTIN10) | NP_001308431.1:p.Arg255His | |
| NM_001321503.1:c.263G>A (SEPTIN10) | NP_001308432.1:p.Arg88His | |
| NM_001321504.1:c.254G>A (SEPTIN10) | NP_001308433.1:p.Arg85His | |
| NM_001321505.1:c.254G>A (SEPTIN10) | NP_001308434.1:p.Arg85His | |
| NM_001321506.1:c.263G>A (SEPTIN10) | NP_001308435.1:p.Arg88His | |
| NM_001321507.1:c.434G>A (SEPTIN10) | NP_001308436.1:p.Arg145His | |
| NM_001321508.1:c.254G>A (SEPTIN10) | NP_001308437.1:p.Arg85His | |
| NM_001321509.1:c.707G>A (SEPTIN10) | NP_001308438.1:p.Arg236His | |
| NM_001321510.1:c.332G>A (SEPTIN10) | NP_001308439.1:p.Arg111His | |
| NM_001321511.1:c.263G>A (SEPTIN10) | NP_001308440.1:p.Arg88His | |
| NM_001321512.1:c.833G>A (SEPTIN10) | NP_001308441.1:p.Arg278His | |
| NM_001321513.1:c.806G>A (SEPTIN10) | NP_001308442.1:p.Arg269His | |
| NM_001321514.1:c.788G>A (SEPTIN10) | NP_001308443.1:p.Arg263His | |
| NM_001321515.1:c.737G>A (SEPTIN10) | NP_001308444.1:p.Arg246His | |
| NM_144710.4:c.833G>A (SEPTIN10) | NP_653311.1:p.Arg278His | |
| NM_178584.3:c.764G>A (SEPTIN10) | NP_848699.1:p.Arg255His | |
| XM_006712317.2:c.833G>A (SEPTIN10) | XP_006712380.1:p.Arg278His | |
| XM_011510698.2:c.788G>A (SEPTIN10) | XP_011509000.1:p.Arg263His | |
| XM_011510699.2:c.764G>A (SEPTIN10) | XP_011509001.1:p.Arg255His | |
| XM_011510700.2:c.707G>A (SEPTIN10) | XP_011509002.1:p.Arg236His | |
| XM_011510701.3:c.434G>A (SEPTIN10) | XP_011509003.1:p.Arg145His | |
| XM_011510702.2:c.332G>A (SEPTIN10) | XP_011509004.1:p.Arg111His | |
| XM_011510703.2:c.806G>A (SEPTIN10) | XP_011509005.1:p.Arg269His | |
| XM_011510704.3:c.833G>A (SEPTIN10) | XP_011509006.1:p.Arg278His | |
| XM_017004623.2:c.8371-275615C>T (RANBP2) | XP_016860112.1:n.8371-275615C>T | |
| XR_922870.3:n.1211G>A (SEPTIN10) | ||
| NM_144710.5:c.833G>A (SEPTIN10) MANE Select | NP_653311.1:p.Arg278His | |
| NM_001321496.2:c.434G>A (SEPTIN10) | NP_001308425.1:p.Arg145His | |
| NM_001321498.2:c.833G>A (SEPTIN10) | NP_001308427.1:p.Arg278His | |
| NM_001321499.2:c.332G>A (SEPTIN10) | NP_001308428.1:p.Arg111His | |
| NM_001321500.2:c.764G>A (SEPTIN10) | NP_001308429.1:p.Arg255His | |
| NM_001321501.2:c.707G>A (SEPTIN10) | NP_001308430.1:p.Arg236His | |
| NM_001321502.2:c.764G>A (SEPTIN10) | NP_001308431.1:p.Arg255His | |
| NM_001321503.2:c.263G>A (SEPTIN10) | NP_001308432.1:p.Arg88His | |
| NM_001321504.2:c.254G>A (SEPTIN10) | NP_001308433.1:p.Arg85His | |
| NM_001321505.2:c.254G>A (SEPTIN10) | NP_001308434.1:p.Arg85His | |
| NM_001321506.2:c.263G>A (SEPTIN10) | NP_001308435.1:p.Arg88His | |
| NM_001321507.2:c.434G>A (SEPTIN10) | NP_001308436.1:p.Arg145His | |
| NM_001321508.2:c.254G>A (SEPTIN10) | NP_001308437.1:p.Arg85His | |
| NM_001321509.2:c.707G>A (SEPTIN10) | NP_001308438.1:p.Arg236His | |
| NM_001321510.2:c.332G>A (SEPTIN10) | NP_001308439.1:p.Arg111His | |
| NM_001321511.2:c.263G>A (SEPTIN10) | NP_001308440.1:p.Arg88His | |
| NM_001321512.2:c.833G>A (SEPTIN10) | NP_001308441.1:p.Arg278His | |
| NM_001321513.2:c.806G>A (SEPTIN10) | NP_001308442.1:p.Arg269His | |
| NM_001321514.2:c.788G>A (SEPTIN10) | NP_001308443.1:p.Arg263His | |
| NM_001321515.2:c.737G>A (SEPTIN10) | NP_001308444.1:p.Arg246His | |
| NM_178584.4:c.764G>A (SEPTIN10) | NP_848699.1:p.Arg255His |