Linked Data
ClinVar Variation Id:
96320
ClinVar RCV Id:
RCV000082458
RCV000260318
RCV000277832
RCV000308697
RCV000314163
RCV000251217
RCV000367775
RCV000724942
RCV000769869
RCV001085154
dbSNP Id:
rs376810671
ExAC:
2:179407097 G / A
gnomAD v2:
2-179407097-G-A
gnomAD v3:
2-178542370-G-A
gnomAD v4:
2-178542370-G-A
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542370G>A , CM000664.2:g.178542370G>A | GRCh38 |
| NC_000002.11:g.179407097G>A , CM000664.1:g.179407097G>A | GRCh37 |
| NC_000002.10:g.179115343G>A | NCBI36 |
| NG_011618.3:g.293433C>T , LRG_391:g.293433C>T | |
| NG_051363.1:g.24544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89682C>T (TTN) | ENSP00000343764.6:p.Thr29894= | |
| ENST00000342175.11:c.70767C>T (TTN) | ENSP00000340554.6:p.Thr23589= | |
| ENST00000359218.10:c.70566C>T (TTN) | ENSP00000352154.5:p.Thr23522= | |
| ENST00000342175.10:c.70767C>T (TTN) | ENSP00000340554.6:p.Thr23589= | |
| ENST00000342992.10:c.89682C>T (TTN) | ENSP00000343764.6:p.Thr29894= | |
| ENST00000359218.9:c.70566C>T (TTN) | ENSP00000352154.5:p.Thr23522= | |
| ENST00000460472.6:c.70191C>T (TTN) | ENSP00000434586.1:p.Thr23397= | |
| ENST00000589042.5:c.97386C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr32462= | |
| ENST00000591111.5:c.92463C>T (TTN) | ENSP00000465570.1:p.Thr30821= | |
| ENST00000615779.4:c.92463C>T (TTN) | ENSP00000483597.1:p.Thr30821= | |
| NM_001256850.1:c.92463C>T (TTN) | NP_001243779.1:p.Thr30821= | |
| NM_001267550.2:c.97386C>T (TTN) MANE Select | NP_001254479.2:p.Thr32462= | |
| NM_003319.4:c.70191C>T (TTN) | NP_003310.4:p.Thr23397= | |
| NM_133378.4:c.89682C>T (TTN) | NP_596869.4:p.Thr29894= | |
| NM_133432.3:c.70566C>T (TTN) | NP_597676.3:p.Thr23522= | |
| NM_133437.4:c.70767C>T (TTN) | NP_597681.4:p.Thr23589= | |
| NR_038271.1:n.446+18734G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9G>A (TTN-AS1) | ||
| XM_011511729.1:c.96483C>T (TTN) | XP_011510031.1:p.Thr32161= | |
| XM_011511730.1:c.70377C>T (TTN) | XP_011510032.1:p.Thr23459= | |
| XM_011511731.1:c.70236C>T (TTN) | XP_011510033.1:p.Thr23412= | |
| XM_017004819.1:c.96279C>T (TTN) | XP_016860308.1:p.Thr32093= | |
| XM_017004820.1:c.91677C>T (TTN) | XP_016860309.1:p.Thr30559= | |
| XM_017004821.1:c.91674C>T (TTN) | XP_016860310.1:p.Thr30558= | |
| XM_017004822.1:c.88716C>T (TTN) | XP_016860311.1:p.Thr29572= | |
| XM_017004823.1:c.70332C>T (TTN) | XP_016860312.1:p.Thr23444= | |
| XM_024453094.1:c.91827C>T (TTN) | XP_024308862.1:p.Thr30609= | |
| XM_024453095.1:c.91824C>T (TTN) | XP_024308863.1:p.Thr30608= | |
| XM_024453096.1:c.91257C>T (TTN) | XP_024308864.1:p.Thr30419= | |
| XM_024453097.1:c.88599C>T (TTN) | XP_024308865.1:p.Thr29533= | |
| XM_024453098.1:c.88518C>T (TTN) | XP_024308866.1:p.Thr29506= | |
| XM_024453099.1:c.70281C>T (TTN) | XP_024308867.1:p.Thr23427= | |
| XM_024453100.1:c.60135C>T (TTN) | XP_024308868.1:p.Thr20045= |