Linked Data
ClinVar Variation Id:
191837
ClinVar RCV Id:
RCV000172178
RCV000213432
RCV000284749
RCV000339727
RCV000278672
RCV000343230
RCV000393696
RCV000527211
RCV002362883
RCV004535170
dbSNP Id:
rs367979582
ExAC:
2:179404151 G / A
gnomAD v2:
2-179404151-G-A
gnomAD v3:
2-178539424-G-A
gnomAD v4:
2-178539424-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539424G>A , CM000664.2:g.178539424G>A | GRCh38 |
| NC_000002.11:g.179404151G>A , CM000664.1:g.179404151G>A | GRCh37 |
| NC_000002.10:g.179112397G>A | NCBI36 |
| NG_011618.3:g.296379C>T , LRG_391:g.296379C>T | |
| NG_051363.1:g.21598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90937C>T (TTN) | ENSP00000343764.6:p.Pro30313Ser | |
| ENST00000342175.11:c.72022C>T (TTN) | ENSP00000340554.6:p.Pro24008Ser | |
| ENST00000359218.10:c.71821C>T (TTN) | ENSP00000352154.5:p.Pro23941Ser | |
| ENST00000342175.10:c.72022C>T (TTN) | ENSP00000340554.6:p.Pro24008Ser | |
| ENST00000342992.10:c.90937C>T (TTN) | ENSP00000343764.6:p.Pro30313Ser | |
| ENST00000359218.9:c.71821C>T (TTN) | ENSP00000352154.5:p.Pro23941Ser | |
| ENST00000460472.6:c.71446C>T (TTN) | ENSP00000434586.1:p.Pro23816Ser | |
| ENST00000589042.5:c.98641C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro32881Ser | |
| ENST00000591111.5:c.93718C>T (TTN) | ENSP00000465570.1:p.Pro31240Ser | |
| ENST00000615779.4:c.93718C>T (TTN) | ENSP00000483597.1:p.Pro31240Ser | |
| NM_001256850.1:c.93718C>T (TTN) | NP_001243779.1:p.Pro31240Ser | |
| NM_001267550.2:c.98641C>T (TTN) MANE Select | NP_001254479.2:p.Pro32881Ser | |
| NM_003319.4:c.71446C>T (TTN) | NP_003310.4:p.Pro23816Ser | |
| NM_133378.4:c.90937C>T (TTN) | NP_596869.4:p.Pro30313Ser | |
| NM_133432.3:c.71821C>T (TTN) | NP_597676.3:p.Pro23941Ser | |
| NM_133437.4:c.72022C>T (TTN) | NP_597681.4:p.Pro24008Ser | |
| NR_038271.1:n.446+15788G>A (TTN-AS1) | ||
| NR_038272.1:n.1374G>A (TTN-AS1) | ||
| XM_011511729.1:c.97738C>T (TTN) | XP_011510031.1:p.Pro32580Ser | |
| XM_011511730.1:c.71632C>T (TTN) | XP_011510032.1:p.Pro23878Ser | |
| XM_011511731.1:c.71491C>T (TTN) | XP_011510033.1:p.Pro23831Ser | |
| XM_017004819.1:c.97534C>T (TTN) | XP_016860308.1:p.Pro32512Ser | |
| XM_017004820.1:c.92932C>T (TTN) | XP_016860309.1:p.Pro30978Ser | |
| XM_017004821.1:c.92929C>T (TTN) | XP_016860310.1:p.Pro30977Ser | |
| XM_017004822.1:c.89971C>T (TTN) | XP_016860311.1:p.Pro29991Ser | |
| XM_017004823.1:c.71587C>T (TTN) | XP_016860312.1:p.Pro23863Ser | |
| XM_024453094.1:c.93082C>T (TTN) | XP_024308862.1:p.Pro31028Ser | |
| XM_024453095.1:c.93079C>T (TTN) | XP_024308863.1:p.Pro31027Ser | |
| XM_024453096.1:c.92512C>T (TTN) | XP_024308864.1:p.Pro30838Ser | |
| XM_024453097.1:c.89854C>T (TTN) | XP_024308865.1:p.Pro29952Ser | |
| XM_024453098.1:c.89773C>T (TTN) | XP_024308866.1:p.Pro29925Ser | |
| XM_024453099.1:c.71536C>T (TTN) | XP_024308867.1:p.Pro23846Ser | |
| XM_024453100.1:c.61390C>T (TTN) | XP_024308868.1:p.Pro20464Ser |