Linked Data
ClinVar Variation Id:
229513
ClinVar RCV Id:
RCV000216300
RCV000284422
RCV000278714
RCV000341722
RCV000328950
RCV000376348
RCV000396489
RCV000725210
RCV001086254
RCV004541343
dbSNP Id:
rs573415766
ExAC:
2:179436310 T / C
gnomAD v2:
2-179436310-T-C
gnomAD v3:
2-178571583-T-C
gnomAD v4:
2-178571583-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571583T>C , CM000664.2:g.178571583T>C | GRCh38 |
| NC_000002.11:g.179436310T>C , CM000664.1:g.179436310T>C | GRCh37 |
| NC_000002.10:g.179144556T>C | NCBI36 |
| NG_011618.3:g.264220A>G , LRG_391:g.264220A>G | |
| NG_051363.1:g.53757T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66845A>G (TTN) | ENSP00000343764.6:p.Asp22282Gly | |
| ENST00000342175.11:c.47930A>G (TTN) | ENSP00000340554.6:p.Asp15977Gly | |
| ENST00000359218.10:c.47729A>G (TTN) | ENSP00000352154.5:p.Asp15910Gly | |
| ENST00000342175.10:c.47930A>G (TTN) | ENSP00000340554.6:p.Asp15977Gly | |
| ENST00000342992.10:c.66845A>G (TTN) | ENSP00000343764.6:p.Asp22282Gly | |
| ENST00000359218.9:c.47729A>G (TTN) | ENSP00000352154.5:p.Asp15910Gly | |
| ENST00000460472.6:c.47354A>G (TTN) | ENSP00000434586.1:p.Asp15785Gly | |
| ENST00000589042.5:c.74549A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp24850Gly | |
| ENST00000591111.5:c.69626A>G (TTN) | ENSP00000465570.1:p.Asp23209Gly | |
| ENST00000615779.4:c.69626A>G (TTN) | ENSP00000483597.1:p.Asp23209Gly | |
| NM_001256850.1:c.69626A>G (TTN) | NP_001243779.1:p.Asp23209Gly | |
| NM_001267550.2:c.74549A>G (TTN) MANE Select | NP_001254479.2:p.Asp24850Gly | |
| NM_003319.4:c.47354A>G (TTN) | NP_003310.4:p.Asp15785Gly | |
| NM_133378.4:c.66845A>G (TTN) | NP_596869.4:p.Asp22282Gly | |
| NM_133432.3:c.47729A>G (TTN) | NP_597676.3:p.Asp15910Gly | |
| NM_133437.4:c.47930A>G (TTN) | NP_597681.4:p.Asp15977Gly | |
| NR_038271.1:n.596+134T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10989T>C (TTN-AS1) | ||
| XM_011511729.1:c.73646A>G (TTN) | XP_011510031.1:p.Asp24549Gly | |
| XM_011511730.1:c.47540A>G (TTN) | XP_011510032.1:p.Asp15847Gly | |
| XM_011511731.1:c.47399A>G (TTN) | XP_011510033.1:p.Asp15800Gly | |
| XM_017004819.1:c.73442A>G (TTN) | XP_016860308.1:p.Asp24481Gly | |
| XM_017004820.1:c.68840A>G (TTN) | XP_016860309.1:p.Asp22947Gly | |
| XM_017004821.1:c.68837A>G (TTN) | XP_016860310.1:p.Asp22946Gly | |
| XM_017004822.1:c.65879A>G (TTN) | XP_016860311.1:p.Asp21960Gly | |
| XM_017004823.1:c.47495A>G (TTN) | XP_016860312.1:p.Asp15832Gly | |
| XM_024453094.1:c.68990A>G (TTN) | XP_024308862.1:p.Asp22997Gly | |
| XM_024453095.1:c.68987A>G (TTN) | XP_024308863.1:p.Asp22996Gly | |
| XM_024453096.1:c.68420A>G (TTN) | XP_024308864.1:p.Asp22807Gly | |
| XM_024453097.1:c.65762A>G (TTN) | XP_024308865.1:p.Asp21921Gly | |
| XM_024453098.1:c.65681A>G (TTN) | XP_024308866.1:p.Asp21894Gly | |
| XM_024453099.1:c.47444A>G (TTN) | XP_024308867.1:p.Asp15815Gly | |
| XM_024453100.1:c.37298A>G (TTN) | XP_024308868.1:p.Asp12433Gly |