Linked Data
ClinVar Variation Id:
47200
ClinVar RCV Id:
RCV000040470
RCV000245900
RCV000295521
RCV000294525
RCV000373573
RCV000316505
RCV000334167
RCV000475891
RCV001798171
RCV004534917
dbSNP Id:
rs200463088
ExAC:
2:179452059 G / A
gnomAD v2:
2-179452059-G-A
gnomAD v3:
2-178587332-G-A
gnomAD v4:
2-178587332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587332G>A , CM000664.2:g.178587332G>A | GRCh38 |
| NC_000002.11:g.179452059G>A , CM000664.1:g.179452059G>A | GRCh37 |
| NC_000002.10:g.179160305G>A | NCBI36 |
| NG_011618.3:g.248471C>T , LRG_391:g.248471C>T | |
| NG_051363.1:g.69506G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56175C>T (TTN) | ENSP00000343764.6:p.Asp18725= | |
| ENST00000342175.11:c.37260C>T (TTN) | ENSP00000340554.6:p.Asp12420= | |
| ENST00000359218.10:c.37059C>T (TTN) | ENSP00000352154.5:p.Asp12353= | |
| ENST00000342175.10:c.37260C>T (TTN) | ENSP00000340554.6:p.Asp12420= | |
| ENST00000342992.10:c.56175C>T (TTN) | ENSP00000343764.6:p.Asp18725= | |
| ENST00000359218.9:c.37059C>T (TTN) | ENSP00000352154.5:p.Asp12353= | |
| ENST00000460472.6:c.36684C>T (TTN) | ENSP00000434586.1:p.Asp12228= | |
| ENST00000589042.5:c.63879C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp21293= | |
| ENST00000591111.5:c.58956C>T (TTN) | ENSP00000465570.1:p.Asp19652= | |
| ENST00000615779.4:c.58956C>T (TTN) | ENSP00000483597.1:p.Asp19652= | |
| NM_001256850.1:c.58956C>T (TTN) | NP_001243779.1:p.Asp19652= | |
| NM_001267550.2:c.63879C>T (TTN) MANE Select | NP_001254479.2:p.Asp21293= | |
| NM_003319.4:c.36684C>T (TTN) | NP_003310.4:p.Asp12228= | |
| NM_133378.4:c.56175C>T (TTN) | NP_596869.4:p.Asp18725= | |
| NM_133432.3:c.37059C>T (TTN) | NP_597676.3:p.Asp12353= | |
| NM_133437.4:c.37260C>T (TTN) | NP_597681.4:p.Asp12420= | |
| NR_038271.1:n.597-10264G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2339G>A (TTN-AS1) | ||
| XM_011511729.1:c.62976C>T (TTN) | XP_011510031.1:p.Asp20992= | |
| XM_011511730.1:c.36870C>T (TTN) | XP_011510032.1:p.Asp12290= | |
| XM_011511731.1:c.36729C>T (TTN) | XP_011510033.1:p.Asp12243= | |
| XM_017004819.1:c.62772C>T (TTN) | XP_016860308.1:p.Asp20924= | |
| XM_017004820.1:c.58170C>T (TTN) | XP_016860309.1:p.Asp19390= | |
| XM_017004821.1:c.58167C>T (TTN) | XP_016860310.1:p.Asp19389= | |
| XM_017004822.1:c.55209C>T (TTN) | XP_016860311.1:p.Asp18403= | |
| XM_017004823.1:c.36825C>T (TTN) | XP_016860312.1:p.Asp12275= | |
| XM_024453094.1:c.58320C>T (TTN) | XP_024308862.1:p.Asp19440= | |
| XM_024453095.1:c.58317C>T (TTN) | XP_024308863.1:p.Asp19439= | |
| XM_024453096.1:c.57750C>T (TTN) | XP_024308864.1:p.Asp19250= | |
| XM_024453097.1:c.55092C>T (TTN) | XP_024308865.1:p.Asp18364= | |
| XM_024453098.1:c.55011C>T (TTN) | XP_024308866.1:p.Asp18337= | |
| XM_024453099.1:c.36774C>T (TTN) | XP_024308867.1:p.Asp12258= | |
| XM_024453100.1:c.26628C>T (TTN) | XP_024308868.1:p.Asp8876= |