Linked Data
ClinVar Variation Id:
178158
ClinVar RCV Id:
RCV000154876
RCV000242624
RCV000725822
RCV001080673
RCV001128728
RCV001128730
RCV001128729
RCV001128727
RCV001131349
RCV004544418
dbSNP Id:
rs201246720
ExAC:
2:179399417 T / C
gnomAD v2:
2-179399417-T-C
gnomAD v3:
2-178534690-T-C
gnomAD v4:
2-178534690-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534690T>C , CM000664.2:g.178534690T>C | GRCh38 |
| NC_000002.11:g.179399417T>C , CM000664.1:g.179399417T>C | GRCh37 |
| NC_000002.10:g.179107663T>C | NCBI36 |
| NG_011618.3:g.301113A>G , LRG_391:g.301113A>G | |
| NG_051363.1:g.16864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94221A>G (TTN) | ENSP00000343764.6:p.Leu31407= | |
| ENST00000342175.11:c.75306A>G (TTN) | ENSP00000340554.6:p.Leu25102= | |
| ENST00000359218.10:c.75105A>G (TTN) | ENSP00000352154.5:p.Leu25035= | |
| ENST00000342175.10:c.75306A>G (TTN) | ENSP00000340554.6:p.Leu25102= | |
| ENST00000342992.10:c.94221A>G (TTN) | ENSP00000343764.6:p.Leu31407= | |
| ENST00000359218.9:c.75105A>G (TTN) | ENSP00000352154.5:p.Leu25035= | |
| ENST00000460472.6:c.74730A>G (TTN) | ENSP00000434586.1:p.Leu24910= | |
| ENST00000589042.5:c.101925A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu33975= | |
| ENST00000591111.5:c.97002A>G (TTN) | ENSP00000465570.1:p.Leu32334= | |
| ENST00000615779.4:c.97002A>G (TTN) | ENSP00000483597.1:p.Leu32334= | |
| NM_001256850.1:c.97002A>G (TTN) | NP_001243779.1:p.Leu32334= | |
| NM_001267550.2:c.101925A>G (TTN) MANE Select | NP_001254479.2:p.Leu33975= | |
| NM_003319.4:c.74730A>G (TTN) | NP_003310.4:p.Leu24910= | |
| NM_133378.4:c.94221A>G (TTN) | NP_596869.4:p.Leu31407= | |
| NM_133432.3:c.75105A>G (TTN) | NP_597676.3:p.Leu25035= | |
| NM_133437.4:c.75306A>G (TTN) | NP_597681.4:p.Leu25102= | |
| NR_038271.1:n.446+11054T>C (TTN-AS1) | ||
| NR_038272.1:n.220-1042T>C (TTN-AS1) | ||
| XM_011511729.1:c.101022A>G (TTN) | XP_011510031.1:p.Leu33674= | |
| XM_011511730.1:c.74916A>G (TTN) | XP_011510032.1:p.Leu24972= | |
| XM_011511731.1:c.74775A>G (TTN) | XP_011510033.1:p.Leu24925= | |
| XM_017004819.1:c.100818A>G (TTN) | XP_016860308.1:p.Leu33606= | |
| XM_017004820.1:c.96216A>G (TTN) | XP_016860309.1:p.Leu32072= | |
| XM_017004821.1:c.96213A>G (TTN) | XP_016860310.1:p.Leu32071= | |
| XM_017004822.1:c.93255A>G (TTN) | XP_016860311.1:p.Leu31085= | |
| XM_017004823.1:c.74871A>G (TTN) | XP_016860312.1:p.Leu24957= | |
| XM_024453094.1:c.96366A>G (TTN) | XP_024308862.1:p.Leu32122= | |
| XM_024453095.1:c.96363A>G (TTN) | XP_024308863.1:p.Leu32121= | |
| XM_024453096.1:c.95796A>G (TTN) | XP_024308864.1:p.Leu31932= | |
| XM_024453097.1:c.93138A>G (TTN) | XP_024308865.1:p.Leu31046= | |
| XM_024453098.1:c.93057A>G (TTN) | XP_024308866.1:p.Leu31019= | |
| XM_024453099.1:c.74820A>G (TTN) | XP_024308867.1:p.Leu24940= | |
| XM_024453100.1:c.64674A>G (TTN) | XP_024308868.1:p.Leu21558= |