Linked Data
ClinVar Variation Id:
3129764
ClinVar RCV Id:
RCV004418109
dbSNP Id:
rs35644696
ExAC:
3:9868870 G / A
gnomAD v2:
3-9868870-G-A
gnomAD v3:
3-9827186-G-A
gnomAD v4:
3-9827186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9827186G>A , CM000665.2:g.9827186G>A | GRCh38 |
| NC_000003.11:g.9868870G>A , CM000665.1:g.9868870G>A | GRCh37 |
| NC_000003.10:g.9843870G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703870.1:c.1193G>A (TTLL3) | ENSP00000515513.1:p.Arg398His | |
| ENST00000426895.10:c.1064G>A (TTLL3) | ENSP00000392549.5:p.Arg355His | |
| ENST00000685419.1:c.1193G>A (TTLL3) MANE Select | ENSP00000510679.1:p.Arg398His | |
| ENST00000426895.9:c.1493G>A (TTLL3) | ENSP00000392549.4:p.Arg498His | |
| ENST00000310252.11:c.930G>A (TTLL3) | ||
| ENST00000383827.5:c.428G>A (TTLL3) | ENSP00000373338.1:p.Arg143His | |
| ENST00000397256.5:c.1247G>A (ARPC4-TTLL3) | ENSP00000380427.1:p.Arg416His | |
| ENST00000426895.8:c.1493G>A (TTLL3) | ENSP00000392549.4:p.Arg498His | |
| ENST00000427220.5:c.*734+114G>A (TTLL3) | ENSP00000395912.1:n.*734+114G>A | |
| ENST00000430390.5:c.646G>A (TTLL3) | ||
| ENST00000430793.1:c.428G>A (TTLL3) | ENSP00000403874.1:p.Arg143His | |
| ENST00000431204.5:c.*154G>A (TTLL3) | ENSP00000398996.1:n.*154G>A | |
| ENST00000438141.5:c.428G>A (TTLL3) | ENSP00000409246.1:p.Arg143His | |
| ENST00000443148.5:c.878G>A (TTLL3) | ENSP00000398097.1:p.Arg293His | |
| ENST00000455274.5:c.428G>A (TTLL3) | ENSP00000409632.1:p.Arg143His | |
| ENST00000466245.1:n.240+38G>A (TTLL3) | ||
| ENST00000473661.5:c.315-29G>A (TTLL3) | ENSP00000430051.1:n.315-29G>A | |
| ENST00000482269.1:n.733G>A (TTLL3) | ||
| ENST00000483051.5:n.1909G>A (TTLL3) | ||
| ENST00000492440.1:n.573G>A (TTLL3) | ||
| ENST00000496526.5:n.3608G>A (TTLL3) | ||
| NM_001025930.3:c.1493G>A (TTLL3) | NP_001021100.3:p.Arg498His | |
| NM_001198793.1:c.1247G>A (ARPC4-TTLL3) | NP_001185722.1:p.Arg416His | |
| NR_037162.1:n.2048+114G>A (TTLL3) | ||
| NM_001025930.4:c.1493G>A (TTLL3) | NP_001021100.3:p.Arg498His | |
| NM_001366051.1:c.1064G>A (TTLL3) | NP_001352980.1:p.Arg355His | |
| NM_001025930.5:c.1493G>A (TTLL3) | NP_001021100.3:p.Arg498His | |
| NM_001366051.2:c.1064G>A (TTLL3) | NP_001352980.1:p.Arg355His | |
| NR_037162.2:n.1746+114G>A (TTLL3) | ||
| NM_001387446.1:c.1193G>A (TTLL3) MANE Select | NP_001374375.1:p.Arg398His | |
| NM_001387447.1:c.1079+114G>A (TTLL3) | NP_001374376.1:n.1079+114G>A | |
| NM_001387448.1:c.1064G>A (TTLL3) | NP_001374377.1:p.Arg355His | |
| NM_001387449.1:c.1064G>A (TTLL3) | NP_001374378.1:p.Arg355His | |
| NM_001387450.1:c.1238G>A (TTLL3) | NP_001374379.1:p.Arg413His | |
| NM_001387451.1:c.1094G>A (TTLL3) | NP_001374380.1:p.Arg365His | |
| NM_001387452.1:c.965G>A (TTLL3) | NP_001374381.1:p.Arg322His | |
| NM_001387453.1:c.965G>A (TTLL3) | NP_001374382.1:p.Arg322His | |
| NM_001387454.1:c.1193G>A (TTLL3) | NP_001374383.1:p.Arg398His | |
| NM_001387455.1:c.1193G>A (TTLL3) | NP_001374384.1:p.Arg398His | |
| NM_001387456.1:c.1193G>A (TTLL3) | NP_001374385.1:p.Arg398His | |
| NM_001387457.1:c.1079+114G>A (TTLL3) | NP_001374386.1:n.1079+114G>A | |
| NM_001387458.1:c.965G>A (TTLL3) | NP_001374387.1:p.Arg322His | |
| NM_001387459.1:c.1094G>A (TTLL3) | NP_001374388.1:p.Arg365His | |
| NM_001387460.1:c.1094G>A (TTLL3) | NP_001374389.1:p.Arg365His | |
| NM_001387461.1:c.1064G>A (TTLL3) | NP_001374390.1:p.Arg355His | |
| NM_001387462.1:c.1061G>A (TTLL3) | NP_001374391.1:p.Arg354His | |
| NM_001387463.1:c.965G>A (TTLL3) | NP_001374392.1:p.Arg322His | |
| NM_001387464.1:c.980+114G>A (TTLL3) | NP_001374393.1:n.980+114G>A | |
| NM_001387465.1:c.980+114G>A (TTLL3) | NP_001374394.1:n.980+114G>A | |
| NM_001387466.1:c.701G>A (TTLL3) | NP_001374395.1:p.Arg234His | |
| NM_001387467.1:c.428G>A (TTLL3) | NP_001374396.1:p.Arg143His | |
| NR_170661.1:n.1164+38G>A (TTLL3) | ||
| NR_170662.1:n.837+38G>A (TTLL3) | ||
| NR_170663.1:n.828G>A (TTLL3) | ||
| NR_170664.1:n.990G>A (TTLL3) | ||
| NR_170665.1:n.1024G>A (TTLL3) |