Linked Data
ClinVar Variation Id:
3160031
ClinVar RCV Id:
RCV004452933
dbSNP Id:
rs757616182
ExAC:
2:110332238 C / A
gnomAD v2:
2-110332238-C-A
gnomAD v4:
2-109574661-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.109574661C>A , CM000664.2:g.109574661C>A | GRCh38 |
| NC_000002.11:g.110332238C>A , CM000664.1:g.110332238C>A | GRCh37 |
| NC_000002.10:g.109689527C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397712.7:c.520G>T (SEPTIN10) MANE Select | ENSP00000380824.2:p.Val174Leu | |
| ENST00000356688.8:c.520G>T (SEPTIN10) | ENSP00000349116.4:p.Val174Leu | |
| ENST00000397712.6:c.520G>T (SEPTIN10) | ENSP00000380824.2:p.Val174Leu | |
| ENST00000397714.6:c.451G>T (SEPTIN10) | ENSP00000380826.2:p.Val151Leu | |
| ENST00000415095.5:c.520G>T (SEPTIN10) | ENSP00000396728.1:p.Val174Leu | |
| ENST00000423520.5:c.100-6685G>T (SEPTIN10) | ENSP00000416597.1:n.100-6685G>T | |
| ENST00000425498.1:c.104-6685G>T (SEPTIN10) | ENSP00000399270.1:n.104-6685G>T | |
| ENST00000437928.5:c.475G>T (SEPTIN10) | ENSP00000407790.1:p.Val159Leu | |
| ENST00000461295.1:c.-60G>T (SEPTIN10) | ENSP00000441218.1:n.-60G>T | |
| ENST00000486678.6:c.*89G>T (SEPTIN10) | ENSP00000446331.1:n.*89G>T | |
| ENST00000493445.5:c.-60G>T (SEPTIN10) | ENSP00000445707.1:n.-60G>T | |
| NM_144710.3:c.520G>T (SEPTIN10) | NP_653311.1:p.Val174Leu | |
| NM_178584.2:c.451G>T (SEPTIN10) | NP_848699.1:p.Val151Leu | |
| NR_047585.1:n.585G>T (SEPTIN10) | ||
| XM_006712317.1:c.520G>T (SEPTIN10) | XP_006712380.1:p.Val174Leu | |
| XM_011510697.1:c.520G>T (SEPTIN10) | XP_011508999.1:p.Val174Leu | |
| XM_011510698.1:c.475G>T (SEPTIN10) | XP_011509000.1:p.Val159Leu | |
| XM_011510699.1:c.451G>T (SEPTIN10) | XP_011509001.1:p.Val151Leu | |
| XM_011510700.1:c.394G>T (SEPTIN10) | XP_011509002.1:p.Val132Leu | |
| XM_011510701.1:c.121G>T (SEPTIN10) | XP_011509003.1:p.Val41Leu | |
| XM_011510702.1:c.100-6685G>T (SEPTIN10) | XP_011509004.1:n.100-6685G>T | |
| XM_011510703.1:c.493G>T (SEPTIN10) | XP_011509005.1:p.Val165Leu | |
| XM_011510704.1:c.520G>T (SEPTIN10) | XP_011509006.1:p.Val174Leu | |
| XM_011510705.1:c.100-6685G>T (SEPTIN10) | XP_011509007.1:n.100-6685G>T | |
| XR_922870.1:n.899G>T (SEPTIN10) | ||
| NM_001321496.1:c.121G>T (SEPTIN10) | NP_001308425.1:p.Val41Leu | |
| NM_001321498.1:c.520G>T (SEPTIN10) | NP_001308427.1:p.Val174Leu | |
| NM_001321499.1:c.100-6685G>T (SEPTIN10) | NP_001308428.1:n.100-6685G>T | |
| NM_001321500.1:c.451G>T (SEPTIN10) | NP_001308429.1:p.Val151Leu | |
| NM_001321501.1:c.394G>T (SEPTIN10) | NP_001308430.1:p.Val132Leu | |
| NM_001321502.1:c.451G>T (SEPTIN10) | NP_001308431.1:p.Val151Leu | |
| NM_001321503.1:c.31-6685G>T (SEPTIN10) | NP_001308432.1:n.31-6685G>T | |
| NM_001321504.1:c.-60G>T (SEPTIN10) | NP_001308433.1:n.-60G>T | |
| NM_001321505.1:c.-60G>T (SEPTIN10) | NP_001308434.1:n.-60G>T | |
| NM_001321506.1:c.31-6685G>T (SEPTIN10) | NP_001308435.1:n.31-6685G>T | |
| NM_001321507.1:c.121G>T (SEPTIN10) | NP_001308436.1:p.Val41Leu | |
| NM_001321508.1:c.-60G>T (SEPTIN10) | NP_001308437.1:n.-60G>T | |
| NM_001321509.1:c.394G>T (SEPTIN10) | NP_001308438.1:p.Val132Leu | |
| NM_001321510.1:c.100-6685G>T (SEPTIN10) | NP_001308439.1:n.100-6685G>T | |
| NM_001321511.1:c.31-6685G>T (SEPTIN10) | NP_001308440.1:n.31-6685G>T | |
| NM_001321512.1:c.520G>T (SEPTIN10) | NP_001308441.1:p.Val174Leu | |
| NM_001321513.1:c.493G>T (SEPTIN10) | NP_001308442.1:p.Val165Leu | |
| NM_001321514.1:c.475G>T (SEPTIN10) | NP_001308443.1:p.Val159Leu | |
| NM_001321515.1:c.424G>T (SEPTIN10) | NP_001308444.1:p.Val142Leu | |
| NM_144710.4:c.520G>T (SEPTIN10) | NP_653311.1:p.Val174Leu | |
| NM_178584.3:c.451G>T (SEPTIN10) | NP_848699.1:p.Val151Leu | |
| XM_006712317.2:c.520G>T (SEPTIN10) | XP_006712380.1:p.Val174Leu | |
| XM_011510698.2:c.475G>T (SEPTIN10) | XP_011509000.1:p.Val159Leu | |
| XM_011510699.2:c.451G>T (SEPTIN10) | XP_011509001.1:p.Val151Leu | |
| XM_011510700.2:c.394G>T (SEPTIN10) | XP_011509002.1:p.Val132Leu | |
| XM_011510701.3:c.121G>T (SEPTIN10) | XP_011509003.1:p.Val41Leu | |
| XM_011510702.2:c.100-6685G>T (SEPTIN10) | XP_011509004.1:n.100-6685G>T | |
| XM_011510703.2:c.493G>T (SEPTIN10) | XP_011509005.1:p.Val165Leu | |
| XM_011510704.3:c.520G>T (SEPTIN10) | XP_011509006.1:p.Val174Leu | |
| XM_017004623.2:c.8371-266743C>A (RANBP2) | XP_016860112.1:n.8371-266743C>A | |
| XR_922870.3:n.898G>T (SEPTIN10) | ||
| NM_144710.5:c.520G>T (SEPTIN10) MANE Select | NP_653311.1:p.Val174Leu | |
| NM_001321496.2:c.121G>T (SEPTIN10) | NP_001308425.1:p.Val41Leu | |
| NM_001321498.2:c.520G>T (SEPTIN10) | NP_001308427.1:p.Val174Leu | |
| NM_001321499.2:c.100-6685G>T (SEPTIN10) | NP_001308428.1:n.100-6685G>T | |
| NM_001321500.2:c.451G>T (SEPTIN10) | NP_001308429.1:p.Val151Leu | |
| NM_001321501.2:c.394G>T (SEPTIN10) | NP_001308430.1:p.Val132Leu | |
| NM_001321502.2:c.451G>T (SEPTIN10) | NP_001308431.1:p.Val151Leu | |
| NM_001321503.2:c.31-6685G>T (SEPTIN10) | NP_001308432.1:n.31-6685G>T | |
| NM_001321504.2:c.-60G>T (SEPTIN10) | NP_001308433.1:n.-60G>T | |
| NM_001321505.2:c.-60G>T (SEPTIN10) | NP_001308434.1:n.-60G>T | |
| NM_001321506.2:c.31-6685G>T (SEPTIN10) | NP_001308435.1:n.31-6685G>T | |
| NM_001321507.2:c.121G>T (SEPTIN10) | NP_001308436.1:p.Val41Leu | |
| NM_001321508.2:c.-60G>T (SEPTIN10) | NP_001308437.1:n.-60G>T | |
| NM_001321509.2:c.394G>T (SEPTIN10) | NP_001308438.1:p.Val132Leu | |
| NM_001321510.2:c.100-6685G>T (SEPTIN10) | NP_001308439.1:n.100-6685G>T | |
| NM_001321511.2:c.31-6685G>T (SEPTIN10) | NP_001308440.1:n.31-6685G>T | |
| NM_001321512.2:c.520G>T (SEPTIN10) | NP_001308441.1:p.Val174Leu | |
| NM_001321513.2:c.493G>T (SEPTIN10) | NP_001308442.1:p.Val165Leu | |
| NM_001321514.2:c.475G>T (SEPTIN10) | NP_001308443.1:p.Val159Leu | |
| NM_001321515.2:c.424G>T (SEPTIN10) | NP_001308444.1:p.Val142Leu | |
| NM_178584.4:c.451G>T (SEPTIN10) | NP_848699.1:p.Val151Leu |