Linked Data
ClinVar Variation Id:
535197
ClinVar RCV Id:
RCV000643032
RCV001131018
RCV001131020
RCV001131017
RCV001131019
RCV001131021
RCV001584482
RCV003235323
dbSNP Id:
rs3813244
ExAC:
2:179434160 C / A
gnomAD v2:
2-179434160-C-A
gnomAD v3:
2-178569433-C-A
gnomAD v4:
2-178569433-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569433C>A , CM000664.2:g.178569433C>A | GRCh38 |
| NC_000002.11:g.179434160C>A , CM000664.1:g.179434160C>A | GRCh37 |
| NC_000002.10:g.179142406C>A | NCBI36 |
| NG_011618.3:g.266370G>T , LRG_391:g.266370G>T | |
| NG_051363.1:g.51607C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68995G>T (TTN) | ENSP00000343764.6:p.Val22999Phe | |
| ENST00000342175.11:c.50080G>T (TTN) | ENSP00000340554.6:p.Val16694Phe | |
| ENST00000359218.10:c.49879G>T (TTN) | ENSP00000352154.5:p.Val16627Phe | |
| ENST00000342175.10:c.50080G>T (TTN) | ENSP00000340554.6:p.Val16694Phe | |
| ENST00000342992.10:c.68995G>T (TTN) | ENSP00000343764.6:p.Val22999Phe | |
| ENST00000359218.9:c.49879G>T (TTN) | ENSP00000352154.5:p.Val16627Phe | |
| ENST00000460472.6:c.49504G>T (TTN) | ENSP00000434586.1:p.Val16502Phe | |
| ENST00000589042.5:c.76699G>T (TTN) MANE Select | ENSP00000467141.1:p.Val25567Phe | |
| ENST00000591111.5:c.71776G>T (TTN) | ENSP00000465570.1:p.Val23926Phe | |
| ENST00000615779.4:c.71776G>T (TTN) | ENSP00000483597.1:p.Val23926Phe | |
| NM_001256850.1:c.71776G>T (TTN) | NP_001243779.1:p.Val23926Phe | |
| NM_001267550.2:c.76699G>T (TTN) MANE Select | NP_001254479.2:p.Val25567Phe | |
| NM_003319.4:c.49504G>T (TTN) | NP_003310.4:p.Val16502Phe | |
| NM_133378.4:c.68995G>T (TTN) | NP_596869.4:p.Val22999Phe | |
| NM_133432.3:c.49879G>T (TTN) | NP_597676.3:p.Val16627Phe | |
| NM_133437.4:c.50080G>T (TTN) | NP_597681.4:p.Val16694Phe | |
| NR_038271.1:n.447-1867C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-13139C>A (TTN-AS1) | ||
| XM_011511729.1:c.75796G>T (TTN) | XP_011510031.1:p.Val25266Phe | |
| XM_011511730.1:c.49690G>T (TTN) | XP_011510032.1:p.Val16564Phe | |
| XM_011511731.1:c.49549G>T (TTN) | XP_011510033.1:p.Val16517Phe | |
| XM_017004819.1:c.75592G>T (TTN) | XP_016860308.1:p.Val25198Phe | |
| XM_017004820.1:c.70990G>T (TTN) | XP_016860309.1:p.Val23664Phe | |
| XM_017004821.1:c.70987G>T (TTN) | XP_016860310.1:p.Val23663Phe | |
| XM_017004822.1:c.68029G>T (TTN) | XP_016860311.1:p.Val22677Phe | |
| XM_017004823.1:c.49645G>T (TTN) | XP_016860312.1:p.Val16549Phe | |
| XM_024453094.1:c.71140G>T (TTN) | XP_024308862.1:p.Val23714Phe | |
| XM_024453095.1:c.71137G>T (TTN) | XP_024308863.1:p.Val23713Phe | |
| XM_024453096.1:c.70570G>T (TTN) | XP_024308864.1:p.Val23524Phe | |
| XM_024453097.1:c.67912G>T (TTN) | XP_024308865.1:p.Val22638Phe | |
| XM_024453098.1:c.67831G>T (TTN) | XP_024308866.1:p.Val22611Phe | |
| XM_024453099.1:c.49594G>T (TTN) | XP_024308867.1:p.Val16532Phe | |
| XM_024453100.1:c.39448G>T (TTN) | XP_024308868.1:p.Val13150Phe |