Linked Data
ClinVar Variation Id:
47059
ClinVar RCV Id:
RCV000040329
RCV000618342
RCV000714048
RCV001086625
RCV001134737
RCV001133291
RCV001133290
RCV001134736
RCV001134738
RCV001798157
dbSNP Id:
rs139789997
ExAC:
2:179473628 C / T
gnomAD v2:
2-179473628-C-T
gnomAD v3:
2-178608901-C-T
gnomAD v4:
2-178608901-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608901C>T , CM000664.2:g.178608901C>T | GRCh38 |
| NC_000002.11:g.179473628C>T , CM000664.1:g.179473628C>T | GRCh37 |
| NC_000002.10:g.179181873C>T | NCBI36 |
| NG_011618.3:g.226902G>A , LRG_391:g.226902G>A | |
| NG_051363.1:g.91075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44406G>A (TTN) | ENSP00000343764.6:p.Pro14802= | |
| ENST00000342175.11:c.25491G>A (TTN) | ENSP00000340554.6:p.Pro8497= | |
| ENST00000359218.10:c.25290G>A (TTN) | ENSP00000352154.5:p.Pro8430= | |
| ENST00000342175.10:c.25491G>A (TTN) | ENSP00000340554.6:p.Pro8497= | |
| ENST00000342992.10:c.44406G>A (TTN) | ENSP00000343764.6:p.Pro14802= | |
| ENST00000359218.9:c.25290G>A (TTN) | ENSP00000352154.5:p.Pro8430= | |
| ENST00000460472.6:c.24915G>A (TTN) | ENSP00000434586.1:p.Pro8305= | |
| ENST00000589042.5:c.52110G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro17370= | |
| ENST00000591111.5:c.47187G>A (TTN) | ENSP00000465570.1:p.Pro15729= | |
| ENST00000615779.4:c.47187G>A (TTN) | ENSP00000483597.1:p.Pro15729= | |
| NM_001256850.1:c.47187G>A (TTN) | NP_001243779.1:p.Pro15729= | |
| NM_001267550.2:c.52110G>A (TTN) MANE Select | NP_001254479.2:p.Pro17370= | |
| NM_003319.4:c.24915G>A (TTN) | NP_003310.4:p.Pro8305= | |
| NM_133378.4:c.44406G>A (TTN) | NP_596869.4:p.Pro14802= | |
| NM_133432.3:c.25290G>A (TTN) | NP_597676.3:p.Pro8430= | |
| NM_133437.4:c.25491G>A (TTN) | NP_597681.4:p.Pro8497= | |
| NR_038271.1:n.782+635C>T (TTN-AS1) | ||
| XM_011511729.1:c.51207G>A (TTN) | XP_011510031.1:p.Pro17069= | |
| XM_011511730.1:c.25101G>A (TTN) | XP_011510032.1:p.Pro8367= | |
| XM_011511731.1:c.24960G>A (TTN) | XP_011510033.1:p.Pro8320= | |
| XM_017004819.1:c.51003G>A (TTN) | XP_016860308.1:p.Pro17001= | |
| XM_017004820.1:c.46401G>A (TTN) | XP_016860309.1:p.Pro15467= | |
| XM_017004821.1:c.46398G>A (TTN) | XP_016860310.1:p.Pro15466= | |
| XM_017004822.1:c.43440G>A (TTN) | XP_016860311.1:p.Pro14480= | |
| XM_017004823.1:c.25056G>A (TTN) | XP_016860312.1:p.Pro8352= | |
| XM_024453094.1:c.46551G>A (TTN) | XP_024308862.1:p.Pro15517= | |
| XM_024453095.1:c.46548G>A (TTN) | XP_024308863.1:p.Pro15516= | |
| XM_024453096.1:c.45981G>A (TTN) | XP_024308864.1:p.Pro15327= | |
| XM_024453097.1:c.43323G>A (TTN) | XP_024308865.1:p.Pro14441= | |
| XM_024453098.1:c.43242G>A (TTN) | XP_024308866.1:p.Pro14414= | |
| XM_024453099.1:c.25005G>A (TTN) | XP_024308867.1:p.Pro8335= | |
| XM_024453100.1:c.14859G>A (TTN) | XP_024308868.1:p.Pro4953= |