Linked Data
ClinVar Variation Id:
47133
ClinVar RCV Id:
RCV000040403
RCV000544873
RCV001129932
RCV001129934
RCV001129933
RCV001129935
RCV001129936
RCV001711155
RCV002321519
dbSNP Id:
rs189818369
ExAC:
2:179459099 G / C
gnomAD v2:
2-179459099-G-C
gnomAD v3:
2-178594372-G-C
gnomAD v4:
2-178594372-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594372G>C , CM000664.2:g.178594372G>C | GRCh38 |
| NC_000002.11:g.179459099G>C , CM000664.1:g.179459099G>C | GRCh37 |
| NC_000002.10:g.179167345G>C | NCBI36 |
| NG_011618.3:g.241431C>G , LRG_391:g.241431C>G | |
| NG_051363.1:g.76546G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50418C>G (TTN) | ENSP00000343764.6:p.Thr16806= | |
| ENST00000342175.11:c.31503C>G (TTN) | ENSP00000340554.6:p.Thr10501= | |
| ENST00000359218.10:c.31302C>G (TTN) | ENSP00000352154.5:p.Thr10434= | |
| ENST00000342175.10:c.31503C>G (TTN) | ENSP00000340554.6:p.Thr10501= | |
| ENST00000342992.10:c.50418C>G (TTN) | ENSP00000343764.6:p.Thr16806= | |
| ENST00000359218.9:c.31302C>G (TTN) | ENSP00000352154.5:p.Thr10434= | |
| ENST00000460472.6:c.30927C>G (TTN) | ENSP00000434586.1:p.Thr10309= | |
| ENST00000589042.5:c.58122C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr19374= | |
| ENST00000591111.5:c.53199C>G (TTN) | ENSP00000465570.1:p.Thr17733= | |
| ENST00000615779.4:c.53199C>G (TTN) | ENSP00000483597.1:p.Thr17733= | |
| NM_001256850.1:c.53199C>G (TTN) | NP_001243779.1:p.Thr17733= | |
| NM_001267550.2:c.58122C>G (TTN) MANE Select | NP_001254479.2:p.Thr19374= | |
| NM_003319.4:c.30927C>G (TTN) | NP_003310.4:p.Thr10309= | |
| NM_133378.4:c.50418C>G (TTN) | NP_596869.4:p.Thr16806= | |
| NM_133432.3:c.31302C>G (TTN) | NP_597676.3:p.Thr10434= | |
| NM_133437.4:c.31503C>G (TTN) | NP_597681.4:p.Thr10501= | |
| NR_038271.1:n.597-3224G>C (TTN-AS1) | ||
| NR_038272.1:n.3364+3058G>C (TTN-AS1) | ||
| XM_011511729.1:c.57219C>G (TTN) | XP_011510031.1:p.Thr19073= | |
| XM_011511730.1:c.31113C>G (TTN) | XP_011510032.1:p.Thr10371= | |
| XM_011511731.1:c.30972C>G (TTN) | XP_011510033.1:p.Thr10324= | |
| XM_017004819.1:c.57015C>G (TTN) | XP_016860308.1:p.Thr19005= | |
| XM_017004820.1:c.52413C>G (TTN) | XP_016860309.1:p.Thr17471= | |
| XM_017004821.1:c.52410C>G (TTN) | XP_016860310.1:p.Thr17470= | |
| XM_017004822.1:c.49452C>G (TTN) | XP_016860311.1:p.Thr16484= | |
| XM_017004823.1:c.31068C>G (TTN) | XP_016860312.1:p.Thr10356= | |
| XM_024453094.1:c.52563C>G (TTN) | XP_024308862.1:p.Thr17521= | |
| XM_024453095.1:c.52560C>G (TTN) | XP_024308863.1:p.Thr17520= | |
| XM_024453096.1:c.51993C>G (TTN) | XP_024308864.1:p.Thr17331= | |
| XM_024453097.1:c.49335C>G (TTN) | XP_024308865.1:p.Thr16445= | |
| XM_024453098.1:c.49254C>G (TTN) | XP_024308866.1:p.Thr16418= | |
| XM_024453099.1:c.31017C>G (TTN) | XP_024308867.1:p.Thr10339= | |
| XM_024453100.1:c.20871C>G (TTN) | XP_024308868.1:p.Thr6957= |