Linked Data
ClinVar Variation Id:
179544
ClinVar RCV Id:
RCV000156336
RCV000206691
RCV000336649
RCV000389979
RCV000296905
RCV000303254
RCV000401815
RCV001311954
RCV001170791
RCV004544452
RCV002345518
dbSNP Id:
rs558830502
ExAC:
2:179430744 C / A
gnomAD v2:
2-179430744-C-A
gnomAD v3:
2-178566017-C-A
gnomAD v4:
2-178566017-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566017C>A , CM000664.2:g.178566017C>A | GRCh38 |
| NC_000002.11:g.179430744C>A , CM000664.1:g.179430744C>A | GRCh37 |
| NC_000002.10:g.179138990C>A | NCBI36 |
| NG_011618.3:g.269786G>T , LRG_391:g.269786G>T | |
| NG_051363.1:g.48191C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72411G>T (TTN) | ENSP00000343764.6:p.Glu24137Asp | |
| ENST00000342175.11:c.53496G>T (TTN) | ENSP00000340554.6:p.Glu17832Asp | |
| ENST00000359218.10:c.53295G>T (TTN) | ENSP00000352154.5:p.Glu17765Asp | |
| ENST00000342175.10:c.53496G>T (TTN) | ENSP00000340554.6:p.Glu17832Asp | |
| ENST00000342992.10:c.72411G>T (TTN) | ENSP00000343764.6:p.Glu24137Asp | |
| ENST00000359218.9:c.53295G>T (TTN) | ENSP00000352154.5:p.Glu17765Asp | |
| ENST00000460472.6:c.52920G>T (TTN) | ENSP00000434586.1:p.Glu17640Asp | |
| ENST00000589042.5:c.80115G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu26705Asp | |
| ENST00000591111.5:c.75192G>T (TTN) | ENSP00000465570.1:p.Glu25064Asp | |
| ENST00000615779.4:c.75192G>T (TTN) | ENSP00000483597.1:p.Glu25064Asp | |
| NM_001256850.1:c.75192G>T (TTN) | NP_001243779.1:p.Glu25064Asp | |
| NM_001267550.2:c.80115G>T (TTN) MANE Select | NP_001254479.2:p.Glu26705Asp | |
| NM_003319.4:c.52920G>T (TTN) | NP_003310.4:p.Glu17640Asp | |
| NM_133378.4:c.72411G>T (TTN) | NP_596869.4:p.Glu24137Asp | |
| NM_133432.3:c.53295G>T (TTN) | NP_597676.3:p.Glu17765Asp | |
| NM_133437.4:c.53496G>T (TTN) | NP_597681.4:p.Glu17832Asp | |
| NR_038271.1:n.447-5283C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16555C>A (TTN-AS1) | ||
| XM_011511729.1:c.79212G>T (TTN) | XP_011510031.1:p.Glu26404Asp | |
| XM_011511730.1:c.53106G>T (TTN) | XP_011510032.1:p.Glu17702Asp | |
| XM_011511731.1:c.52965G>T (TTN) | XP_011510033.1:p.Glu17655Asp | |
| XM_017004819.1:c.79008G>T (TTN) | XP_016860308.1:p.Glu26336Asp | |
| XM_017004820.1:c.74406G>T (TTN) | XP_016860309.1:p.Glu24802Asp | |
| XM_017004821.1:c.74403G>T (TTN) | XP_016860310.1:p.Glu24801Asp | |
| XM_017004822.1:c.71445G>T (TTN) | XP_016860311.1:p.Glu23815Asp | |
| XM_017004823.1:c.53061G>T (TTN) | XP_016860312.1:p.Glu17687Asp | |
| XM_024453094.1:c.74556G>T (TTN) | XP_024308862.1:p.Glu24852Asp | |
| XM_024453095.1:c.74553G>T (TTN) | XP_024308863.1:p.Glu24851Asp | |
| XM_024453096.1:c.73986G>T (TTN) | XP_024308864.1:p.Glu24662Asp | |
| XM_024453097.1:c.71328G>T (TTN) | XP_024308865.1:p.Glu23776Asp | |
| XM_024453098.1:c.71247G>T (TTN) | XP_024308866.1:p.Glu23749Asp | |
| XM_024453099.1:c.53010G>T (TTN) | XP_024308867.1:p.Glu17670Asp | |
| XM_024453100.1:c.42864G>T (TTN) | XP_024308868.1:p.Glu14288Asp |