Linked Data
ClinVar Variation Id:
332700
ClinVar RCV Id:
RCV000269466
RCV000284570
RCV000329031
RCV000378783
RCV000383573
RCV000727776
RCV001798783
RCV002379220
dbSNP Id:
rs773542514
ExAC:
2:179400051 G / A
gnomAD v2:
2-179400051-G-A
gnomAD v3:
2-178535324-G-A
gnomAD v4:
2-178535324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535324G>A , CM000664.2:g.178535324G>A | GRCh38 |
| NC_000002.11:g.179400051G>A , CM000664.1:g.179400051G>A | GRCh37 |
| NC_000002.10:g.179108297G>A | NCBI36 |
| NG_011618.3:g.300479C>T , LRG_391:g.300479C>T | |
| NG_051363.1:g.17498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93587C>T (TTN) | ENSP00000343764.6:p.Ala31196Val | |
| ENST00000342175.11:c.74672C>T (TTN) | ENSP00000340554.6:p.Ala24891Val | |
| ENST00000359218.10:c.74471C>T (TTN) | ENSP00000352154.5:p.Ala24824Val | |
| ENST00000342175.10:c.74672C>T (TTN) | ENSP00000340554.6:p.Ala24891Val | |
| ENST00000342992.10:c.93587C>T (TTN) | ENSP00000343764.6:p.Ala31196Val | |
| ENST00000359218.9:c.74471C>T (TTN) | ENSP00000352154.5:p.Ala24824Val | |
| ENST00000460472.6:c.74096C>T (TTN) | ENSP00000434586.1:p.Ala24699Val | |
| ENST00000589042.5:c.101291C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala33764Val | |
| ENST00000591111.5:c.96368C>T (TTN) | ENSP00000465570.1:p.Ala32123Val | |
| ENST00000615779.4:c.96368C>T (TTN) | ENSP00000483597.1:p.Ala32123Val | |
| NM_001256850.1:c.96368C>T (TTN) | NP_001243779.1:p.Ala32123Val | |
| NM_001267550.2:c.101291C>T (TTN) MANE Select | NP_001254479.2:p.Ala33764Val | |
| NM_003319.4:c.74096C>T (TTN) | NP_003310.4:p.Ala24699Val | |
| NM_133378.4:c.93587C>T (TTN) | NP_596869.4:p.Ala31196Val | |
| NM_133432.3:c.74471C>T (TTN) | NP_597676.3:p.Ala24824Val | |
| NM_133437.4:c.74672C>T (TTN) | NP_597681.4:p.Ala24891Val | |
| NR_038271.1:n.446+11688G>A (TTN-AS1) | ||
| NR_038272.1:n.220-408G>A (TTN-AS1) | ||
| XM_011511729.1:c.100388C>T (TTN) | XP_011510031.1:p.Ala33463Val | |
| XM_011511730.1:c.74282C>T (TTN) | XP_011510032.1:p.Ala24761Val | |
| XM_011511731.1:c.74141C>T (TTN) | XP_011510033.1:p.Ala24714Val | |
| XM_017004819.1:c.100184C>T (TTN) | XP_016860308.1:p.Ala33395Val | |
| XM_017004820.1:c.95582C>T (TTN) | XP_016860309.1:p.Ala31861Val | |
| XM_017004821.1:c.95579C>T (TTN) | XP_016860310.1:p.Ala31860Val | |
| XM_017004822.1:c.92621C>T (TTN) | XP_016860311.1:p.Ala30874Val | |
| XM_017004823.1:c.74237C>T (TTN) | XP_016860312.1:p.Ala24746Val | |
| XM_024453094.1:c.95732C>T (TTN) | XP_024308862.1:p.Ala31911Val | |
| XM_024453095.1:c.95729C>T (TTN) | XP_024308863.1:p.Ala31910Val | |
| XM_024453096.1:c.95162C>T (TTN) | XP_024308864.1:p.Ala31721Val | |
| XM_024453097.1:c.92504C>T (TTN) | XP_024308865.1:p.Ala30835Val | |
| XM_024453098.1:c.92423C>T (TTN) | XP_024308866.1:p.Ala30808Val | |
| XM_024453099.1:c.74186C>T (TTN) | XP_024308867.1:p.Ala24729Val | |
| XM_024453100.1:c.64040C>T (TTN) | XP_024308868.1:p.Ala21347Val |