Linked Data
ClinVar Variation Id:
137817
ClinVar RCV Id:
RCV000154881
RCV000249130
RCV000533532
RCV001129489
RCV001132218
RCV001132219
RCV001529852
RCV001129487
RCV001129488
RCV003486656
dbSNP Id:
rs374081262
ExAC:
2:179403770 G / A
gnomAD v2:
2-179403770-G-A
gnomAD v3:
2-178539043-G-A
gnomAD v4:
2-178539043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539043G>A , CM000664.2:g.178539043G>A | GRCh38 |
| NC_000002.11:g.179403770G>A , CM000664.1:g.179403770G>A | GRCh37 |
| NC_000002.10:g.179112016G>A | NCBI36 |
| NG_011618.3:g.296760C>T , LRG_391:g.296760C>T | |
| NG_051363.1:g.21217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91188C>T (TTN) | ENSP00000343764.6:p.Pro30396= | |
| ENST00000342175.11:c.72273C>T (TTN) | ENSP00000340554.6:p.Pro24091= | |
| ENST00000359218.10:c.72072C>T (TTN) | ENSP00000352154.5:p.Pro24024= | |
| ENST00000342175.10:c.72273C>T (TTN) | ENSP00000340554.6:p.Pro24091= | |
| ENST00000342992.10:c.91188C>T (TTN) | ENSP00000343764.6:p.Pro30396= | |
| ENST00000359218.9:c.72072C>T (TTN) | ENSP00000352154.5:p.Pro24024= | |
| ENST00000460472.6:c.71697C>T (TTN) | ENSP00000434586.1:p.Pro23899= | |
| ENST00000589042.5:c.98892C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro32964= | |
| ENST00000591111.5:c.93969C>T (TTN) | ENSP00000465570.1:p.Pro31323= | |
| ENST00000615779.4:c.93969C>T (TTN) | ENSP00000483597.1:p.Pro31323= | |
| NM_001256850.1:c.93969C>T (TTN) | NP_001243779.1:p.Pro31323= | |
| NM_001267550.2:c.98892C>T (TTN) MANE Select | NP_001254479.2:p.Pro32964= | |
| NM_003319.4:c.71697C>T (TTN) | NP_003310.4:p.Pro23899= | |
| NM_133378.4:c.91188C>T (TTN) | NP_596869.4:p.Pro30396= | |
| NM_133432.3:c.72072C>T (TTN) | NP_597676.3:p.Pro24024= | |
| NM_133437.4:c.72273C>T (TTN) | NP_597681.4:p.Pro24091= | |
| NR_038271.1:n.446+15407G>A (TTN-AS1) | ||
| NR_038272.1:n.993G>A (TTN-AS1) | ||
| XM_011511729.1:c.97989C>T (TTN) | XP_011510031.1:p.Pro32663= | |
| XM_011511730.1:c.71883C>T (TTN) | XP_011510032.1:p.Pro23961= | |
| XM_011511731.1:c.71742C>T (TTN) | XP_011510033.1:p.Pro23914= | |
| XM_017004819.1:c.97785C>T (TTN) | XP_016860308.1:p.Pro32595= | |
| XM_017004820.1:c.93183C>T (TTN) | XP_016860309.1:p.Pro31061= | |
| XM_017004821.1:c.93180C>T (TTN) | XP_016860310.1:p.Pro31060= | |
| XM_017004822.1:c.90222C>T (TTN) | XP_016860311.1:p.Pro30074= | |
| XM_017004823.1:c.71838C>T (TTN) | XP_016860312.1:p.Pro23946= | |
| XM_024453094.1:c.93333C>T (TTN) | XP_024308862.1:p.Pro31111= | |
| XM_024453095.1:c.93330C>T (TTN) | XP_024308863.1:p.Pro31110= | |
| XM_024453096.1:c.92763C>T (TTN) | XP_024308864.1:p.Pro30921= | |
| XM_024453097.1:c.90105C>T (TTN) | XP_024308865.1:p.Pro30035= | |
| XM_024453098.1:c.90024C>T (TTN) | XP_024308866.1:p.Pro30008= | |
| XM_024453099.1:c.71787C>T (TTN) | XP_024308867.1:p.Pro23929= | |
| XM_024453100.1:c.61641C>T (TTN) | XP_024308868.1:p.Pro20547= |