Linked Data
ClinVar Variation Id:
47036
ClinVar RCV Id:
RCV000040306
RCV000082412
RCV000282058
RCV000278424
RCV000318292
RCV000321923
RCV000376541
RCV000618761
RCV000770020
RCV000852849
RCV001084198
dbSNP Id:
rs55663050
ExAC:
2:179477529 C / G
gnomAD v2:
2-179477529-C-G
gnomAD v3:
2-178612802-C-G
gnomAD v4:
2-178612802-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612802C>G , CM000664.2:g.178612802C>G | GRCh38 |
| NC_000002.11:g.179477529C>G , CM000664.1:g.179477529C>G | GRCh37 |
| NC_000002.10:g.179185774C>G | NCBI36 |
| NG_011618.3:g.223001G>C , LRG_391:g.223001G>C | |
| NG_051363.1:g.94976C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42215G>C (TTN) | ENSP00000343764.6:p.Ser14072Thr | |
| ENST00000342175.11:c.23300G>C (TTN) | ENSP00000340554.6:p.Ser7767Thr | |
| ENST00000359218.10:c.23099G>C (TTN) | ENSP00000352154.5:p.Ser7700Thr | |
| ENST00000342175.10:c.23300G>C (TTN) | ENSP00000340554.6:p.Ser7767Thr | |
| ENST00000342992.10:c.42215G>C (TTN) | ENSP00000343764.6:p.Ser14072Thr | |
| ENST00000359218.9:c.23099G>C (TTN) | ENSP00000352154.5:p.Ser7700Thr | |
| ENST00000460472.6:c.22724G>C (TTN) | ENSP00000434586.1:p.Ser7575Thr | |
| ENST00000589042.5:c.49919G>C (TTN) MANE Select | ENSP00000467141.1:p.Ser16640Thr | |
| ENST00000591111.5:c.44996G>C (TTN) | ENSP00000465570.1:p.Ser14999Thr | |
| ENST00000615779.4:c.44996G>C (TTN) | ENSP00000483597.1:p.Ser14999Thr | |
| NM_001256850.1:c.44996G>C (TTN) | NP_001243779.1:p.Ser14999Thr | |
| NM_001267550.2:c.49919G>C (TTN) MANE Select | NP_001254479.2:p.Ser16640Thr | |
| NM_003319.4:c.22724G>C (TTN) | NP_003310.4:p.Ser7575Thr | |
| NM_133378.4:c.42215G>C (TTN) | NP_596869.4:p.Ser14072Thr | |
| NM_133432.3:c.23099G>C (TTN) | NP_597676.3:p.Ser7700Thr | |
| NM_133437.4:c.23300G>C (TTN) | NP_597681.4:p.Ser7767Thr | |
| NR_038271.1:n.783-1233C>G (TTN-AS1) | ||
| XM_011511729.1:c.49016G>C (TTN) | XP_011510031.1:p.Ser16339Thr | |
| XM_011511730.1:c.22910G>C (TTN) | XP_011510032.1:p.Ser7637Thr | |
| XM_011511731.1:c.22769G>C (TTN) | XP_011510033.1:p.Ser7590Thr | |
| XM_017004819.1:c.48812G>C (TTN) | XP_016860308.1:p.Ser16271Thr | |
| XM_017004820.1:c.44210G>C (TTN) | XP_016860309.1:p.Ser14737Thr | |
| XM_017004821.1:c.44207G>C (TTN) | XP_016860310.1:p.Ser14736Thr | |
| XM_017004822.1:c.41249G>C (TTN) | XP_016860311.1:p.Ser13750Thr | |
| XM_017004823.1:c.22865G>C (TTN) | XP_016860312.1:p.Ser7622Thr | |
| XM_024453094.1:c.44360G>C (TTN) | XP_024308862.1:p.Ser14787Thr | |
| XM_024453095.1:c.44357G>C (TTN) | XP_024308863.1:p.Ser14786Thr | |
| XM_024453096.1:c.43790G>C (TTN) | XP_024308864.1:p.Ser14597Thr | |
| XM_024453097.1:c.41132G>C (TTN) | XP_024308865.1:p.Ser13711Thr | |
| XM_024453098.1:c.41051G>C (TTN) | XP_024308866.1:p.Ser13684Thr | |
| XM_024453099.1:c.22814G>C (TTN) | XP_024308867.1:p.Ser7605Thr | |
| XM_024453100.1:c.12668G>C (TTN) | XP_024308868.1:p.Ser4223Thr |