Linked Data
ClinVar Variation Id:
404799
ClinVar RCV Id:
RCV000468524
RCV001129063
RCV001129062
RCV001129060
RCV001129061
RCV001136031
RCV001662418
dbSNP Id:
rs758006837
ExAC:
2:179410810 C / A
gnomAD v2:
2-179410810-C-A
gnomAD v3:
2-178546083-C-A
gnomAD v4:
2-178546083-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546083C>A , CM000664.2:g.178546083C>A | GRCh38 |
| NC_000002.11:g.179410810C>A , CM000664.1:g.179410810C>A | GRCh37 |
| NC_000002.10:g.179119056C>A | NCBI36 |
| NG_011618.3:g.289720G>T , LRG_391:g.289720G>T | |
| NG_051363.1:g.28257C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87449G>T (TTN) | ENSP00000343764.6:p.Ser29150Ile | |
| ENST00000342175.11:c.68534G>T (TTN) | ENSP00000340554.6:p.Ser22845Ile | |
| ENST00000359218.10:c.68333G>T (TTN) | ENSP00000352154.5:p.Ser22778Ile | |
| ENST00000342175.10:c.68534G>T (TTN) | ENSP00000340554.6:p.Ser22845Ile | |
| ENST00000342992.10:c.87449G>T (TTN) | ENSP00000343764.6:p.Ser29150Ile | |
| ENST00000359218.9:c.68333G>T (TTN) | ENSP00000352154.5:p.Ser22778Ile | |
| ENST00000460472.6:c.67958G>T (TTN) | ENSP00000434586.1:p.Ser22653Ile | |
| ENST00000589042.5:c.95153G>T (TTN) MANE Select | ENSP00000467141.1:p.Ser31718Ile | |
| ENST00000591111.5:c.90230G>T (TTN) | ENSP00000465570.1:p.Ser30077Ile | |
| ENST00000615779.4:c.90230G>T (TTN) | ENSP00000483597.1:p.Ser30077Ile | |
| NM_001256850.1:c.90230G>T (TTN) | NP_001243779.1:p.Ser30077Ile | |
| NM_001267550.2:c.95153G>T (TTN) MANE Select | NP_001254479.2:p.Ser31718Ile | |
| NM_003319.4:c.67958G>T (TTN) | NP_003310.4:p.Ser22653Ile | |
| NM_133378.4:c.87449G>T (TTN) | NP_596869.4:p.Ser29150Ile | |
| NM_133432.3:c.68333G>T (TTN) | NP_597676.3:p.Ser22778Ile | |
| NM_133437.4:c.68534G>T (TTN) | NP_597681.4:p.Ser22845Ile | |
| NR_038271.1:n.446+22447C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3722C>A (TTN-AS1) | ||
| XM_011511729.1:c.94250G>T (TTN) | XP_011510031.1:p.Ser31417Ile | |
| XM_011511730.1:c.68144G>T (TTN) | XP_011510032.1:p.Ser22715Ile | |
| XM_011511731.1:c.68003G>T (TTN) | XP_011510033.1:p.Ser22668Ile | |
| XM_017004819.1:c.94046G>T (TTN) | XP_016860308.1:p.Ser31349Ile | |
| XM_017004820.1:c.89444G>T (TTN) | XP_016860309.1:p.Ser29815Ile | |
| XM_017004821.1:c.89441G>T (TTN) | XP_016860310.1:p.Ser29814Ile | |
| XM_017004822.1:c.86483G>T (TTN) | XP_016860311.1:p.Ser28828Ile | |
| XM_017004823.1:c.68099G>T (TTN) | XP_016860312.1:p.Ser22700Ile | |
| XM_024453094.1:c.89594G>T (TTN) | XP_024308862.1:p.Ser29865Ile | |
| XM_024453095.1:c.89591G>T (TTN) | XP_024308863.1:p.Ser29864Ile | |
| XM_024453096.1:c.89024G>T (TTN) | XP_024308864.1:p.Ser29675Ile | |
| XM_024453097.1:c.86366G>T (TTN) | XP_024308865.1:p.Ser28789Ile | |
| XM_024453098.1:c.86285G>T (TTN) | XP_024308866.1:p.Ser28762Ile | |
| XM_024453099.1:c.68048G>T (TTN) | XP_024308867.1:p.Ser22683Ile | |
| XM_024453100.1:c.57902G>T (TTN) | XP_024308868.1:p.Ser19301Ile |