Linked Data
ClinVar Variation Id:
192199
ClinVar RCV Id:
RCV000172784
dbSNP Id:
rs786205343
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539676T>C , CM000664.2:g.178539676T>C | GRCh38 |
| NC_000002.11:g.179404403T>C , CM000664.1:g.179404403T>C | GRCh37 |
| NC_000002.10:g.179112649T>C | NCBI36 |
| NG_011618.3:g.296127A>G , LRG_391:g.296127A>G | |
| NG_051363.1:g.21850T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90685A>G (TTN) | ENSP00000343764.6:p.Asn30229Asp | |
| ENST00000342175.11:c.71770A>G (TTN) | ENSP00000340554.6:p.Asn23924Asp | |
| ENST00000359218.10:c.71569A>G (TTN) | ENSP00000352154.5:p.Asn23857Asp | |
| ENST00000342175.10:c.71770A>G (TTN) | ENSP00000340554.6:p.Asn23924Asp | |
| ENST00000342992.10:c.90685A>G (TTN) | ENSP00000343764.6:p.Asn30229Asp | |
| ENST00000359218.9:c.71569A>G (TTN) | ENSP00000352154.5:p.Asn23857Asp | |
| ENST00000460472.6:c.71194A>G (TTN) | ENSP00000434586.1:p.Asn23732Asp | |
| ENST00000589042.5:c.98389A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn32797Asp | |
| ENST00000591111.5:c.93466A>G (TTN) | ENSP00000465570.1:p.Asn31156Asp | |
| ENST00000615779.4:c.93466A>G (TTN) | ENSP00000483597.1:p.Asn31156Asp | |
| NM_001256850.1:c.93466A>G (TTN) | NP_001243779.1:p.Asn31156Asp | |
| NM_001267550.2:c.98389A>G (TTN) MANE Select | NP_001254479.2:p.Asn32797Asp | |
| NM_003319.4:c.71194A>G (TTN) | NP_003310.4:p.Asn23732Asp | |
| NM_133378.4:c.90685A>G (TTN) | NP_596869.4:p.Asn30229Asp | |
| NM_133432.3:c.71569A>G (TTN) | NP_597676.3:p.Asn23857Asp | |
| NM_133437.4:c.71770A>G (TTN) | NP_597681.4:p.Asn23924Asp | |
| NR_038271.1:n.446+16040T>C (TTN-AS1) | ||
| NR_038272.1:n.1626T>C (TTN-AS1) | ||
| XM_011511729.1:c.97486A>G (TTN) | XP_011510031.1:p.Asn32496Asp | |
| XM_011511730.1:c.71380A>G (TTN) | XP_011510032.1:p.Asn23794Asp | |
| XM_011511731.1:c.71239A>G (TTN) | XP_011510033.1:p.Asn23747Asp | |
| XM_017004819.1:c.97282A>G (TTN) | XP_016860308.1:p.Asn32428Asp | |
| XM_017004820.1:c.92680A>G (TTN) | XP_016860309.1:p.Asn30894Asp | |
| XM_017004821.1:c.92677A>G (TTN) | XP_016860310.1:p.Asn30893Asp | |
| XM_017004822.1:c.89719A>G (TTN) | XP_016860311.1:p.Asn29907Asp | |
| XM_017004823.1:c.71335A>G (TTN) | XP_016860312.1:p.Asn23779Asp | |
| XM_024453094.1:c.92830A>G (TTN) | XP_024308862.1:p.Asn30944Asp | |
| XM_024453095.1:c.92827A>G (TTN) | XP_024308863.1:p.Asn30943Asp | |
| XM_024453096.1:c.92260A>G (TTN) | XP_024308864.1:p.Asn30754Asp | |
| XM_024453097.1:c.89602A>G (TTN) | XP_024308865.1:p.Asn29868Asp | |
| XM_024453098.1:c.89521A>G (TTN) | XP_024308866.1:p.Asn29841Asp | |
| XM_024453099.1:c.71284A>G (TTN) | XP_024308867.1:p.Asn23762Asp | |
| XM_024453100.1:c.61138A>G (TTN) | XP_024308868.1:p.Asn20380Asp |