Linked Data
ClinVar Variation Id:
332720
ClinVar RCV Id:
RCV000289017
RCV000290273
RCV000378771
RCV000343900
RCV000384493
RCV002057614
RCV004021785
dbSNP Id:
rs144101806
ExAC:
2:179408841 T / C
gnomAD v2:
2-179408841-T-C
gnomAD v3:
2-178544114-T-C
gnomAD v4:
2-178544114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544114T>C , CM000664.2:g.178544114T>C | GRCh38 |
| NC_000002.11:g.179408841T>C , CM000664.1:g.179408841T>C | GRCh37 |
| NC_000002.10:g.179117087T>C | NCBI36 |
| NG_011618.3:g.291689A>G , LRG_391:g.291689A>G | |
| NG_051363.1:g.26288T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88326A>G (TTN) | ENSP00000343764.6:p.Glu29442= | |
| ENST00000342175.11:c.69411A>G (TTN) | ENSP00000340554.6:p.Glu23137= | |
| ENST00000359218.10:c.69210A>G (TTN) | ENSP00000352154.5:p.Glu23070= | |
| ENST00000342175.10:c.69411A>G (TTN) | ENSP00000340554.6:p.Glu23137= | |
| ENST00000342992.10:c.88326A>G (TTN) | ENSP00000343764.6:p.Glu29442= | |
| ENST00000359218.9:c.69210A>G (TTN) | ENSP00000352154.5:p.Glu23070= | |
| ENST00000460472.6:c.68835A>G (TTN) | ENSP00000434586.1:p.Glu22945= | |
| ENST00000589042.5:c.96030A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu32010= | |
| ENST00000591111.5:c.91107A>G (TTN) | ENSP00000465570.1:p.Glu30369= | |
| ENST00000615779.4:c.91107A>G (TTN) | ENSP00000483597.1:p.Glu30369= | |
| NM_001256850.1:c.91107A>G (TTN) | NP_001243779.1:p.Glu30369= | |
| NM_001267550.2:c.96030A>G (TTN) MANE Select | NP_001254479.2:p.Glu32010= | |
| NM_003319.4:c.68835A>G (TTN) | NP_003310.4:p.Glu22945= | |
| NM_133378.4:c.88326A>G (TTN) | NP_596869.4:p.Glu29442= | |
| NM_133432.3:c.69210A>G (TTN) | NP_597676.3:p.Glu23070= | |
| NM_133437.4:c.69411A>G (TTN) | NP_597681.4:p.Glu23137= | |
| NR_038271.1:n.446+20478T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1753T>C (TTN-AS1) | ||
| XM_011511729.1:c.95127A>G (TTN) | XP_011510031.1:p.Glu31709= | |
| XM_011511730.1:c.69021A>G (TTN) | XP_011510032.1:p.Glu23007= | |
| XM_011511731.1:c.68880A>G (TTN) | XP_011510033.1:p.Glu22960= | |
| XM_017004819.1:c.94923A>G (TTN) | XP_016860308.1:p.Glu31641= | |
| XM_017004820.1:c.90321A>G (TTN) | XP_016860309.1:p.Glu30107= | |
| XM_017004821.1:c.90318A>G (TTN) | XP_016860310.1:p.Glu30106= | |
| XM_017004822.1:c.87360A>G (TTN) | XP_016860311.1:p.Glu29120= | |
| XM_017004823.1:c.68976A>G (TTN) | XP_016860312.1:p.Glu22992= | |
| XM_024453094.1:c.90471A>G (TTN) | XP_024308862.1:p.Glu30157= | |
| XM_024453095.1:c.90468A>G (TTN) | XP_024308863.1:p.Glu30156= | |
| XM_024453096.1:c.89901A>G (TTN) | XP_024308864.1:p.Glu29967= | |
| XM_024453097.1:c.87243A>G (TTN) | XP_024308865.1:p.Glu29081= | |
| XM_024453098.1:c.87162A>G (TTN) | XP_024308866.1:p.Glu29054= | |
| XM_024453099.1:c.68925A>G (TTN) | XP_024308867.1:p.Glu22975= | |
| XM_024453100.1:c.58779A>G (TTN) | XP_024308868.1:p.Glu19593= |