Linked Data
ClinVar Variation Id:
192149
ClinVar RCV Id:
RCV000172627
RCV000604152
RCV001083852
RCV001129601
RCV001129602
RCV001129603
RCV001129604
RCV001129605
RCV002354445
dbSNP Id:
rs142478636
ExAC:
2:179425208 G / T
gnomAD v2:
2-179425208-G-T
gnomAD v3:
2-178560481-G-T
gnomAD v4:
2-178560481-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560481G>T , CM000664.2:g.178560481G>T | GRCh38 |
| NC_000002.11:g.179425208G>T , CM000664.1:g.179425208G>T | GRCh37 |
| NC_000002.10:g.179133454G>T | NCBI36 |
| NG_011618.3:g.275322C>A , LRG_391:g.275322C>A | |
| NG_051363.1:g.42655G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77947C>A (TTN) | ENSP00000343764.6:p.Pro25983Thr | |
| ENST00000342175.11:c.59032C>A (TTN) | ENSP00000340554.6:p.Pro19678Thr | |
| ENST00000359218.10:c.58831C>A (TTN) | ENSP00000352154.5:p.Pro19611Thr | |
| ENST00000342175.10:c.59032C>A (TTN) | ENSP00000340554.6:p.Pro19678Thr | |
| ENST00000342992.10:c.77947C>A (TTN) | ENSP00000343764.6:p.Pro25983Thr | |
| ENST00000359218.9:c.58831C>A (TTN) | ENSP00000352154.5:p.Pro19611Thr | |
| ENST00000460472.6:c.58456C>A (TTN) | ENSP00000434586.1:p.Pro19486Thr | |
| ENST00000589042.5:c.85651C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro28551Thr | |
| ENST00000591111.5:c.80728C>A (TTN) | ENSP00000465570.1:p.Pro26910Thr | |
| ENST00000615779.4:c.80728C>A (TTN) | ENSP00000483597.1:p.Pro26910Thr | |
| NM_001256850.1:c.80728C>A (TTN) | NP_001243779.1:p.Pro26910Thr | |
| NM_001267550.2:c.85651C>A (TTN) MANE Select | NP_001254479.2:p.Pro28551Thr | |
| NM_003319.4:c.58456C>A (TTN) | NP_003310.4:p.Pro19486Thr | |
| NM_133378.4:c.77947C>A (TTN) | NP_596869.4:p.Pro25983Thr | |
| NM_133432.3:c.58831C>A (TTN) | NP_597676.3:p.Pro19611Thr | |
| NM_133437.4:c.59032C>A (TTN) | NP_597681.4:p.Pro19678Thr | |
| NR_038271.1:n.447-10819G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18120G>T (TTN-AS1) | ||
| XM_011511729.1:c.84748C>A (TTN) | XP_011510031.1:p.Pro28250Thr | |
| XM_011511730.1:c.58642C>A (TTN) | XP_011510032.1:p.Pro19548Thr | |
| XM_011511731.1:c.58501C>A (TTN) | XP_011510033.1:p.Pro19501Thr | |
| XM_017004819.1:c.84544C>A (TTN) | XP_016860308.1:p.Pro28182Thr | |
| XM_017004820.1:c.79942C>A (TTN) | XP_016860309.1:p.Pro26648Thr | |
| XM_017004821.1:c.79939C>A (TTN) | XP_016860310.1:p.Pro26647Thr | |
| XM_017004822.1:c.76981C>A (TTN) | XP_016860311.1:p.Pro25661Thr | |
| XM_017004823.1:c.58597C>A (TTN) | XP_016860312.1:p.Pro19533Thr | |
| XM_024453094.1:c.80092C>A (TTN) | XP_024308862.1:p.Pro26698Thr | |
| XM_024453095.1:c.80089C>A (TTN) | XP_024308863.1:p.Pro26697Thr | |
| XM_024453096.1:c.79522C>A (TTN) | XP_024308864.1:p.Pro26508Thr | |
| XM_024453097.1:c.76864C>A (TTN) | XP_024308865.1:p.Pro25622Thr | |
| XM_024453098.1:c.76783C>A (TTN) | XP_024308866.1:p.Pro25595Thr | |
| XM_024453099.1:c.58546C>A (TTN) | XP_024308867.1:p.Pro19516Thr | |
| XM_024453100.1:c.48400C>A (TTN) | XP_024308868.1:p.Pro16134Thr |