Linked Data
ClinVar Variation Id:
178150
ClinVar RCV Id:
RCV000154865
RCV000322761
RCV000234218
RCV000323432
RCV000250627
RCV000287512
RCV000361840
RCV000381988
RCV000769834
RCV001086128
dbSNP Id:
rs377439315
ExAC:
2:179391754 A / G
gnomAD v2:
2-179391754-A-G
gnomAD v3:
2-178527027-A-G
gnomAD v4:
2-178527027-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527027A>G , CM000664.2:g.178527027A>G | GRCh38 |
| NC_000002.11:g.179391754A>G , CM000664.1:g.179391754A>G | GRCh37 |
| NC_000002.10:g.179100000A>G | NCBI36 |
| NG_011618.3:g.308776T>C , LRG_391:g.308776T>C | |
| NG_051363.1:g.9201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100257T>C (TTN) | ENSP00000343764.6:p.His33419= | |
| ENST00000342175.11:c.81342T>C (TTN) | ENSP00000340554.6:p.His27114= | |
| ENST00000359218.10:c.81141T>C (TTN) | ENSP00000352154.5:p.His27047= | |
| ENST00000342175.10:c.81342T>C (TTN) | ENSP00000340554.6:p.His27114= | |
| ENST00000342992.10:c.100257T>C (TTN) | ENSP00000343764.6:p.His33419= | |
| ENST00000359218.9:c.81141T>C (TTN) | ENSP00000352154.5:p.His27047= | |
| ENST00000460472.6:c.80766T>C (TTN) | ENSP00000434586.1:p.His26922= | |
| ENST00000589042.5:c.107961T>C (TTN) MANE Select | ENSP00000467141.1:p.His35987= | |
| ENST00000591111.5:c.103038T>C (TTN) | ENSP00000465570.1:p.His34346= | |
| ENST00000615779.4:c.103038T>C (TTN) | ENSP00000483597.1:p.His34346= | |
| NM_001256850.1:c.103038T>C (TTN) | NP_001243779.1:p.His34346= | |
| NM_001267550.2:c.107961T>C (TTN) MANE Select | NP_001254479.2:p.His35987= | |
| NM_003319.4:c.80766T>C (TTN) | NP_003310.4:p.His26922= | |
| NM_133378.4:c.100257T>C (TTN) | NP_596869.4:p.His33419= | |
| NM_133432.3:c.81141T>C (TTN) | NP_597676.3:p.His27047= | |
| NM_133437.4:c.81342T>C (TTN) | NP_597681.4:p.His27114= | |
| NR_038271.1:n.446+3391A>G (TTN-AS1) | ||
| NR_038272.1:n.219+3391A>G (TTN-AS1) | ||
| XM_011511729.1:c.107058T>C (TTN) | XP_011510031.1:p.His35686= | |
| XM_011511730.1:c.80952T>C (TTN) | XP_011510032.1:p.His26984= | |
| XM_011511731.1:c.80811T>C (TTN) | XP_011510033.1:p.His26937= | |
| XM_017004819.1:c.106854T>C (TTN) | XP_016860308.1:p.His35618= | |
| XM_017004820.1:c.102252T>C (TTN) | XP_016860309.1:p.His34084= | |
| XM_017004821.1:c.102249T>C (TTN) | XP_016860310.1:p.His34083= | |
| XM_017004822.1:c.99291T>C (TTN) | XP_016860311.1:p.His33097= | |
| XM_017004823.1:c.80907T>C (TTN) | XP_016860312.1:p.His26969= | |
| XM_024453094.1:c.102402T>C (TTN) | XP_024308862.1:p.His34134= | |
| XM_024453095.1:c.102399T>C (TTN) | XP_024308863.1:p.His34133= | |
| XM_024453096.1:c.101832T>C (TTN) | XP_024308864.1:p.His33944= | |
| XM_024453097.1:c.99174T>C (TTN) | XP_024308865.1:p.His33058= | |
| XM_024453098.1:c.99093T>C (TTN) | XP_024308866.1:p.His33031= | |
| XM_024453099.1:c.80856T>C (TTN) | XP_024308867.1:p.His26952= | |
| XM_024453100.1:c.70710T>C (TTN) | XP_024308868.1:p.His23570= |