Linked Data
ClinVar Variation Id:
132137
ClinVar RCV Id:
RCV000119025
RCV002492403
RCV003987364
RCV003988827
RCV000684823
RCV000727672
RCV003343647
dbSNP Id:
rs753334568
ExAC:
2:179410768 G / A
gnomAD v2:
2-179410768-G-A
gnomAD v3:
2-178546041-G-A
gnomAD v4:
2-178546041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546041G>A , CM000664.2:g.178546041G>A | GRCh38 |
| NC_000002.11:g.179410768G>A , CM000664.1:g.179410768G>A | GRCh37 |
| NC_000002.10:g.179119014G>A | NCBI36 |
| NG_011618.3:g.289762C>T , LRG_391:g.289762C>T | |
| NG_051363.1:g.28215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87491C>T (TTN) | ENSP00000343764.6:p.Pro29164Leu | |
| ENST00000342175.11:c.68576C>T (TTN) | ENSP00000340554.6:p.Pro22859Leu | |
| ENST00000359218.10:c.68375C>T (TTN) | ENSP00000352154.5:p.Pro22792Leu | |
| ENST00000342175.10:c.68576C>T (TTN) | ENSP00000340554.6:p.Pro22859Leu | |
| ENST00000342992.10:c.87491C>T (TTN) | ENSP00000343764.6:p.Pro29164Leu | |
| ENST00000359218.9:c.68375C>T (TTN) | ENSP00000352154.5:p.Pro22792Leu | |
| ENST00000460472.6:c.68000C>T (TTN) | ENSP00000434586.1:p.Pro22667Leu | |
| ENST00000589042.5:c.95195C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro31732Leu | |
| ENST00000591111.5:c.90272C>T (TTN) | ENSP00000465570.1:p.Pro30091Leu | |
| ENST00000615779.4:c.90272C>T (TTN) | ENSP00000483597.1:p.Pro30091Leu | |
| NM_001256850.1:c.90272C>T (TTN) | NP_001243779.1:p.Pro30091Leu | |
| NM_001267550.2:c.95195C>T (TTN) MANE Select | NP_001254479.2:p.Pro31732Leu | |
| NM_003319.4:c.68000C>T (TTN) | NP_003310.4:p.Pro22667Leu | |
| NM_133378.4:c.87491C>T (TTN) | NP_596869.4:p.Pro29164Leu | |
| NM_133432.3:c.68375C>T (TTN) | NP_597676.3:p.Pro22792Leu | |
| NM_133437.4:c.68576C>T (TTN) | NP_597681.4:p.Pro22859Leu | |
| NR_038271.1:n.446+22405G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3680G>A (TTN-AS1) | ||
| XM_011511729.1:c.94292C>T (TTN) | XP_011510031.1:p.Pro31431Leu | |
| XM_011511730.1:c.68186C>T (TTN) | XP_011510032.1:p.Pro22729Leu | |
| XM_011511731.1:c.68045C>T (TTN) | XP_011510033.1:p.Pro22682Leu | |
| XM_017004819.1:c.94088C>T (TTN) | XP_016860308.1:p.Pro31363Leu | |
| XM_017004820.1:c.89486C>T (TTN) | XP_016860309.1:p.Pro29829Leu | |
| XM_017004821.1:c.89483C>T (TTN) | XP_016860310.1:p.Pro29828Leu | |
| XM_017004822.1:c.86525C>T (TTN) | XP_016860311.1:p.Pro28842Leu | |
| XM_017004823.1:c.68141C>T (TTN) | XP_016860312.1:p.Pro22714Leu | |
| XM_024453094.1:c.89636C>T (TTN) | XP_024308862.1:p.Pro29879Leu | |
| XM_024453095.1:c.89633C>T (TTN) | XP_024308863.1:p.Pro29878Leu | |
| XM_024453096.1:c.89066C>T (TTN) | XP_024308864.1:p.Pro29689Leu | |
| XM_024453097.1:c.86408C>T (TTN) | XP_024308865.1:p.Pro28803Leu | |
| XM_024453098.1:c.86327C>T (TTN) | XP_024308866.1:p.Pro28776Leu | |
| XM_024453099.1:c.68090C>T (TTN) | XP_024308867.1:p.Pro22697Leu | |
| XM_024453100.1:c.57944C>T (TTN) | XP_024308868.1:p.Pro19315Leu |