Linked Data
ClinVar Variation Id:
191806
ClinVar RCV Id:
RCV000172145
RCV000220851
RCV001079372
RCV001134481
RCV001134482
RCV001134483
RCV001135937
RCV001135938
RCV002415734
RCV004539582
dbSNP Id:
rs199531140
ExAC:
2:179393389 C / G
gnomAD v2:
2-179393389-C-G
gnomAD v3:
2-178528662-C-G
gnomAD v4:
2-178528662-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528662C>G , CM000664.2:g.178528662C>G | GRCh38 |
| NC_000002.11:g.179393389C>G , CM000664.1:g.179393389C>G | GRCh37 |
| NC_000002.10:g.179101635C>G | NCBI36 |
| NG_011618.3:g.307141G>C , LRG_391:g.307141G>C | |
| NG_051363.1:g.10836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99385G>C (TTN) | ENSP00000343764.6:p.Glu33129Gln | |
| ENST00000342175.11:c.80470G>C (TTN) | ENSP00000340554.6:p.Glu26824Gln | |
| ENST00000359218.10:c.80269G>C (TTN) | ENSP00000352154.5:p.Glu26757Gln | |
| ENST00000342175.10:c.80470G>C (TTN) | ENSP00000340554.6:p.Glu26824Gln | |
| ENST00000342992.10:c.99385G>C (TTN) | ENSP00000343764.6:p.Glu33129Gln | |
| ENST00000359218.9:c.80269G>C (TTN) | ENSP00000352154.5:p.Glu26757Gln | |
| ENST00000460472.6:c.79894G>C (TTN) | ENSP00000434586.1:p.Glu26632Gln | |
| ENST00000589042.5:c.107089G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu35697Gln | |
| ENST00000591111.5:c.102166G>C (TTN) | ENSP00000465570.1:p.Glu34056Gln | |
| ENST00000615779.4:c.102166G>C (TTN) | ENSP00000483597.1:p.Glu34056Gln | |
| NM_001256850.1:c.102166G>C (TTN) | NP_001243779.1:p.Glu34056Gln | |
| NM_001267550.2:c.107089G>C (TTN) MANE Select | NP_001254479.2:p.Glu35697Gln | |
| NM_003319.4:c.79894G>C (TTN) | NP_003310.4:p.Glu26632Gln | |
| NM_133378.4:c.99385G>C (TTN) | NP_596869.4:p.Glu33129Gln | |
| NM_133432.3:c.80269G>C (TTN) | NP_597676.3:p.Glu26757Gln | |
| NM_133437.4:c.80470G>C (TTN) | NP_597681.4:p.Glu26824Gln | |
| NR_038271.1:n.446+5026C>G (TTN-AS1) | ||
| NR_038272.1:n.219+5026C>G (TTN-AS1) | ||
| XM_011511729.1:c.106186G>C (TTN) | XP_011510031.1:p.Glu35396Gln | |
| XM_011511730.1:c.80080G>C (TTN) | XP_011510032.1:p.Glu26694Gln | |
| XM_011511731.1:c.79939G>C (TTN) | XP_011510033.1:p.Glu26647Gln | |
| XM_017004819.1:c.105982G>C (TTN) | XP_016860308.1:p.Glu35328Gln | |
| XM_017004820.1:c.101380G>C (TTN) | XP_016860309.1:p.Glu33794Gln | |
| XM_017004821.1:c.101377G>C (TTN) | XP_016860310.1:p.Glu33793Gln | |
| XM_017004822.1:c.98419G>C (TTN) | XP_016860311.1:p.Glu32807Gln | |
| XM_017004823.1:c.80035G>C (TTN) | XP_016860312.1:p.Glu26679Gln | |
| XM_024453094.1:c.101530G>C (TTN) | XP_024308862.1:p.Glu33844Gln | |
| XM_024453095.1:c.101527G>C (TTN) | XP_024308863.1:p.Glu33843Gln | |
| XM_024453096.1:c.100960G>C (TTN) | XP_024308864.1:p.Glu33654Gln | |
| XM_024453097.1:c.98302G>C (TTN) | XP_024308865.1:p.Glu32768Gln | |
| XM_024453098.1:c.98221G>C (TTN) | XP_024308866.1:p.Glu32741Gln | |
| XM_024453099.1:c.79984G>C (TTN) | XP_024308867.1:p.Glu26662Gln | |
| XM_024453100.1:c.69838G>C (TTN) | XP_024308868.1:p.Glu23280Gln |