Linked Data
ClinVar Variation Id:
47646
ClinVar RCV Id:
RCV000040915
RCV000306383
RCV000349889
RCV000350714
RCV000407697
RCV000862227
RCV000403010
RCV002390172
RCV001535414
dbSNP Id:
rs376894729
ExAC:
2:179399186 C / A
gnomAD v2:
2-179399186-C-A
gnomAD v3:
2-178534459-C-A
gnomAD v4:
2-178534459-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534459C>A , CM000664.2:g.178534459C>A | GRCh38 |
| NC_000002.11:g.179399186C>A , CM000664.1:g.179399186C>A | GRCh37 |
| NC_000002.10:g.179107432C>A | NCBI36 |
| NG_011618.3:g.301344G>T , LRG_391:g.301344G>T | |
| NG_051363.1:g.16633C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94452G>T (TTN) | ENSP00000343764.6:p.Arg31484= | |
| ENST00000342175.11:c.75537G>T (TTN) | ENSP00000340554.6:p.Arg25179= | |
| ENST00000359218.10:c.75336G>T (TTN) | ENSP00000352154.5:p.Arg25112= | |
| ENST00000342175.10:c.75537G>T (TTN) | ENSP00000340554.6:p.Arg25179= | |
| ENST00000342992.10:c.94452G>T (TTN) | ENSP00000343764.6:p.Arg31484= | |
| ENST00000359218.9:c.75336G>T (TTN) | ENSP00000352154.5:p.Arg25112= | |
| ENST00000460472.6:c.74961G>T (TTN) | ENSP00000434586.1:p.Arg24987= | |
| ENST00000589042.5:c.102156G>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34052= | |
| ENST00000591111.5:c.97233G>T (TTN) | ENSP00000465570.1:p.Arg32411= | |
| ENST00000615779.4:c.97233G>T (TTN) | ENSP00000483597.1:p.Arg32411= | |
| NM_001256850.1:c.97233G>T (TTN) | NP_001243779.1:p.Arg32411= | |
| NM_001267550.2:c.102156G>T (TTN) MANE Select | NP_001254479.2:p.Arg34052= | |
| NM_003319.4:c.74961G>T (TTN) | NP_003310.4:p.Arg24987= | |
| NM_133378.4:c.94452G>T (TTN) | NP_596869.4:p.Arg31484= | |
| NM_133432.3:c.75336G>T (TTN) | NP_597676.3:p.Arg25112= | |
| NM_133437.4:c.75537G>T (TTN) | NP_597681.4:p.Arg25179= | |
| NR_038271.1:n.446+10823C>A (TTN-AS1) | ||
| NR_038272.1:n.220-1273C>A (TTN-AS1) | ||
| XM_011511729.1:c.101253G>T (TTN) | XP_011510031.1:p.Arg33751= | |
| XM_011511730.1:c.75147G>T (TTN) | XP_011510032.1:p.Arg25049= | |
| XM_011511731.1:c.75006G>T (TTN) | XP_011510033.1:p.Arg25002= | |
| XM_017004819.1:c.101049G>T (TTN) | XP_016860308.1:p.Arg33683= | |
| XM_017004820.1:c.96447G>T (TTN) | XP_016860309.1:p.Arg32149= | |
| XM_017004821.1:c.96444G>T (TTN) | XP_016860310.1:p.Arg32148= | |
| XM_017004822.1:c.93486G>T (TTN) | XP_016860311.1:p.Arg31162= | |
| XM_017004823.1:c.75102G>T (TTN) | XP_016860312.1:p.Arg25034= | |
| XM_024453094.1:c.96597G>T (TTN) | XP_024308862.1:p.Arg32199= | |
| XM_024453095.1:c.96594G>T (TTN) | XP_024308863.1:p.Arg32198= | |
| XM_024453096.1:c.96027G>T (TTN) | XP_024308864.1:p.Arg32009= | |
| XM_024453097.1:c.93369G>T (TTN) | XP_024308865.1:p.Arg31123= | |
| XM_024453098.1:c.93288G>T (TTN) | XP_024308866.1:p.Arg31096= | |
| XM_024453099.1:c.75051G>T (TTN) | XP_024308867.1:p.Arg25017= | |
| XM_024453100.1:c.64905G>T (TTN) | XP_024308868.1:p.Arg21635= |