Linked Data
ClinVar Variation Id:
47213
ClinVar RCV Id:
RCV000040483
RCV000082419
RCV000852822
RCV000620024
RCV001134836
RCV001134837
RCV001134839
RCV001079485
RCV001134838
RCV001134840
RCV001798173
dbSNP Id:
rs150661999
ExAC:
2:179449579 C / T
gnomAD v2:
2-179449579-C-T
gnomAD v3:
2-178584852-C-T
gnomAD v4:
2-178584852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584852C>T , CM000664.2:g.178584852C>T | GRCh38 |
| NC_000002.11:g.179449579C>T , CM000664.1:g.179449579C>T | GRCh37 |
| NC_000002.10:g.179157825C>T | NCBI36 |
| NG_011618.3:g.250951G>A , LRG_391:g.250951G>A | |
| NG_051363.1:g.67026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57085G>A (TTN) | ENSP00000343764.6:p.Val19029Met | |
| ENST00000342175.11:c.38170G>A (TTN) | ENSP00000340554.6:p.Val12724Met | |
| ENST00000359218.10:c.37969G>A (TTN) | ENSP00000352154.5:p.Val12657Met | |
| ENST00000342175.10:c.38170G>A (TTN) | ENSP00000340554.6:p.Val12724Met | |
| ENST00000342992.10:c.57085G>A (TTN) | ENSP00000343764.6:p.Val19029Met | |
| ENST00000359218.9:c.37969G>A (TTN) | ENSP00000352154.5:p.Val12657Met | |
| ENST00000460472.6:c.37594G>A (TTN) | ENSP00000434586.1:p.Val12532Met | |
| ENST00000589042.5:c.64789G>A (TTN) MANE Select | ENSP00000467141.1:p.Val21597Met | |
| ENST00000591111.5:c.59866G>A (TTN) | ENSP00000465570.1:p.Val19956Met | |
| ENST00000615779.4:c.59866G>A (TTN) | ENSP00000483597.1:p.Val19956Met | |
| NM_001256850.1:c.59866G>A (TTN) | NP_001243779.1:p.Val19956Met | |
| NM_001267550.2:c.64789G>A (TTN) MANE Select | NP_001254479.2:p.Val21597Met | |
| NM_003319.4:c.37594G>A (TTN) | NP_003310.4:p.Val12532Met | |
| NM_133378.4:c.57085G>A (TTN) | NP_596869.4:p.Val19029Met | |
| NM_133432.3:c.37969G>A (TTN) | NP_597676.3:p.Val12657Met | |
| NM_133437.4:c.38170G>A (TTN) | NP_597681.4:p.Val12724Met | |
| NR_038271.1:n.597-12744C>T (TTN-AS1) | ||
| NR_038272.1:n.3047C>T (TTN-AS1) | ||
| XM_011511729.1:c.63886G>A (TTN) | XP_011510031.1:p.Val21296Met | |
| XM_011511730.1:c.37780G>A (TTN) | XP_011510032.1:p.Val12594Met | |
| XM_011511731.1:c.37639G>A (TTN) | XP_011510033.1:p.Val12547Met | |
| XM_017004819.1:c.63682G>A (TTN) | XP_016860308.1:p.Val21228Met | |
| XM_017004820.1:c.59080G>A (TTN) | XP_016860309.1:p.Val19694Met | |
| XM_017004821.1:c.59077G>A (TTN) | XP_016860310.1:p.Val19693Met | |
| XM_017004822.1:c.56119G>A (TTN) | XP_016860311.1:p.Val18707Met | |
| XM_017004823.1:c.37735G>A (TTN) | XP_016860312.1:p.Val12579Met | |
| XM_024453094.1:c.59230G>A (TTN) | XP_024308862.1:p.Val19744Met | |
| XM_024453095.1:c.59227G>A (TTN) | XP_024308863.1:p.Val19743Met | |
| XM_024453096.1:c.58660G>A (TTN) | XP_024308864.1:p.Val19554Met | |
| XM_024453097.1:c.56002G>A (TTN) | XP_024308865.1:p.Val18668Met | |
| XM_024453098.1:c.55921G>A (TTN) | XP_024308866.1:p.Val18641Met | |
| XM_024453099.1:c.37684G>A (TTN) | XP_024308867.1:p.Val12562Met | |
| XM_024453100.1:c.27538G>A (TTN) | XP_024308868.1:p.Val9180Met |