Linked Data
ClinVar Variation Id:
332788
ClinVar RCV Id:
RCV000277943
RCV000280973
RCV000330736
RCV000388719
RCV000387532
RCV000434663
RCV000470162
RCV001528543
RCV002328852
dbSNP Id:
rs368692510
ExAC:
2:179438976 A / G
gnomAD v2:
2-179438976-A-G
gnomAD v3:
2-178574249-A-G
gnomAD v4:
2-178574249-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574249A>G , CM000664.2:g.178574249A>G | GRCh38 |
| NC_000002.11:g.179438976A>G , CM000664.1:g.179438976A>G | GRCh37 |
| NC_000002.10:g.179147222A>G | NCBI36 |
| NG_011618.3:g.261554T>C , LRG_391:g.261554T>C | |
| NG_051363.1:g.56423A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64179T>C (TTN) | ENSP00000343764.6:p.Val21393= | |
| ENST00000342175.11:c.45264T>C (TTN) | ENSP00000340554.6:p.Val15088= | |
| ENST00000359218.10:c.45063T>C (TTN) | ENSP00000352154.5:p.Val15021= | |
| ENST00000342175.10:c.45264T>C (TTN) | ENSP00000340554.6:p.Val15088= | |
| ENST00000342992.10:c.64179T>C (TTN) | ENSP00000343764.6:p.Val21393= | |
| ENST00000359218.9:c.45063T>C (TTN) | ENSP00000352154.5:p.Val15021= | |
| ENST00000460472.6:c.44688T>C (TTN) | ENSP00000434586.1:p.Val14896= | |
| ENST00000589042.5:c.71883T>C (TTN) MANE Select | ENSP00000467141.1:p.Val23961= | |
| ENST00000591111.5:c.66960T>C (TTN) | ENSP00000465570.1:p.Val22320= | |
| ENST00000615779.4:c.66960T>C (TTN) | ENSP00000483597.1:p.Val22320= | |
| NM_001256850.1:c.66960T>C (TTN) | NP_001243779.1:p.Val22320= | |
| NM_001267550.2:c.71883T>C (TTN) MANE Select | NP_001254479.2:p.Val23961= | |
| NM_003319.4:c.44688T>C (TTN) | NP_003310.4:p.Val14896= | |
| NM_133378.4:c.64179T>C (TTN) | NP_596869.4:p.Val21393= | |
| NM_133432.3:c.45063T>C (TTN) | NP_597676.3:p.Val15021= | |
| NM_133437.4:c.45264T>C (TTN) | NP_597681.4:p.Val15088= | |
| NR_038271.1:n.596+2800A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8323A>G (TTN-AS1) | ||
| XM_011511729.1:c.70980T>C (TTN) | XP_011510031.1:p.Val23660= | |
| XM_011511730.1:c.44874T>C (TTN) | XP_011510032.1:p.Val14958= | |
| XM_011511731.1:c.44733T>C (TTN) | XP_011510033.1:p.Val14911= | |
| XM_017004819.1:c.70776T>C (TTN) | XP_016860308.1:p.Val23592= | |
| XM_017004820.1:c.66174T>C (TTN) | XP_016860309.1:p.Val22058= | |
| XM_017004821.1:c.66171T>C (TTN) | XP_016860310.1:p.Val22057= | |
| XM_017004822.1:c.63213T>C (TTN) | XP_016860311.1:p.Val21071= | |
| XM_017004823.1:c.44829T>C (TTN) | XP_016860312.1:p.Val14943= | |
| XM_024453094.1:c.66324T>C (TTN) | XP_024308862.1:p.Val22108= | |
| XM_024453095.1:c.66321T>C (TTN) | XP_024308863.1:p.Val22107= | |
| XM_024453096.1:c.65754T>C (TTN) | XP_024308864.1:p.Val21918= | |
| XM_024453097.1:c.63096T>C (TTN) | XP_024308865.1:p.Val21032= | |
| XM_024453098.1:c.63015T>C (TTN) | XP_024308866.1:p.Val21005= | |
| XM_024453099.1:c.44778T>C (TTN) | XP_024308867.1:p.Val14926= | |
| XM_024453100.1:c.34632T>C (TTN) | XP_024308868.1:p.Val11544= |