Linked Data
ClinVar Variation Id:
47587
ClinVar RCV Id:
RCV000040856
RCV000266897
RCV000297925
RCV000324467
RCV000354697
RCV000407527
RCV000726291
RCV001088537
RCV002362658
dbSNP Id:
rs397517771
ExAC:
2:179406062 C / A
gnomAD v2:
2-179406062-C-A
gnomAD v3:
2-178541335-C-A
gnomAD v4:
2-178541335-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541335C>A , CM000664.2:g.178541335C>A | GRCh38 |
| NC_000002.11:g.179406062C>A , CM000664.1:g.179406062C>A | GRCh37 |
| NC_000002.10:g.179114308C>A | NCBI36 |
| NG_011618.3:g.294468G>T , LRG_391:g.294468G>T | |
| NG_051363.1:g.23509C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90038G>T (TTN) | ENSP00000343764.6:p.Gly30013Val | |
| ENST00000342175.11:c.71123G>T (TTN) | ENSP00000340554.6:p.Gly23708Val | |
| ENST00000359218.10:c.70922G>T (TTN) | ENSP00000352154.5:p.Gly23641Val | |
| ENST00000342175.10:c.71123G>T (TTN) | ENSP00000340554.6:p.Gly23708Val | |
| ENST00000342992.10:c.90038G>T (TTN) | ENSP00000343764.6:p.Gly30013Val | |
| ENST00000359218.9:c.70922G>T (TTN) | ENSP00000352154.5:p.Gly23641Val | |
| ENST00000460472.6:c.70547G>T (TTN) | ENSP00000434586.1:p.Gly23516Val | |
| ENST00000589042.5:c.97742G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly32581Val | |
| ENST00000591111.5:c.92819G>T (TTN) | ENSP00000465570.1:p.Gly30940Val | |
| ENST00000615779.4:c.92819G>T (TTN) | ENSP00000483597.1:p.Gly30940Val | |
| NM_001256850.1:c.92819G>T (TTN) | NP_001243779.1:p.Gly30940Val | |
| NM_001267550.2:c.97742G>T (TTN) MANE Select | NP_001254479.2:p.Gly32581Val | |
| NM_003319.4:c.70547G>T (TTN) | NP_003310.4:p.Gly23516Val | |
| NM_133378.4:c.90038G>T (TTN) | NP_596869.4:p.Gly30013Val | |
| NM_133432.3:c.70922G>T (TTN) | NP_597676.3:p.Gly23641Val | |
| NM_133437.4:c.71123G>T (TTN) | NP_597681.4:p.Gly23708Val | |
| NR_038271.1:n.446+17699C>A (TTN-AS1) | ||
| NR_038272.1:n.1904-887C>A (TTN-AS1) | ||
| XM_011511729.1:c.96839G>T (TTN) | XP_011510031.1:p.Gly32280Val | |
| XM_011511730.1:c.70733G>T (TTN) | XP_011510032.1:p.Gly23578Val | |
| XM_011511731.1:c.70592G>T (TTN) | XP_011510033.1:p.Gly23531Val | |
| XM_017004819.1:c.96635G>T (TTN) | XP_016860308.1:p.Gly32212Val | |
| XM_017004820.1:c.92033G>T (TTN) | XP_016860309.1:p.Gly30678Val | |
| XM_017004821.1:c.92030G>T (TTN) | XP_016860310.1:p.Gly30677Val | |
| XM_017004822.1:c.89072G>T (TTN) | XP_016860311.1:p.Gly29691Val | |
| XM_017004823.1:c.70688G>T (TTN) | XP_016860312.1:p.Gly23563Val | |
| XM_024453094.1:c.92183G>T (TTN) | XP_024308862.1:p.Gly30728Val | |
| XM_024453095.1:c.92180G>T (TTN) | XP_024308863.1:p.Gly30727Val | |
| XM_024453096.1:c.91613G>T (TTN) | XP_024308864.1:p.Gly30538Val | |
| XM_024453097.1:c.88955G>T (TTN) | XP_024308865.1:p.Gly29652Val | |
| XM_024453098.1:c.88874G>T (TTN) | XP_024308866.1:p.Gly29625Val | |
| XM_024453099.1:c.70637G>T (TTN) | XP_024308867.1:p.Gly23546Val | |
| XM_024453100.1:c.60491G>T (TTN) | XP_024308868.1:p.Gly20164Val |