Linked Data
ClinVar Variation Id:
2112044
ClinVar RCV Id:
RCV003024134
dbSNP Id:
rs761087225
ExAC:
2:179396895 T / C
gnomAD v2:
2-179396895-T-C
gnomAD v3:
2-178532168-T-C
gnomAD v4:
2-178532168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532168T>C , CM000664.2:g.178532168T>C | GRCh38 |
| NC_000002.11:g.179396895T>C , CM000664.1:g.179396895T>C | GRCh37 |
| NC_000002.10:g.179105141T>C | NCBI36 |
| NG_011618.3:g.303635A>G , LRG_391:g.303635A>G | |
| NG_051363.1:g.14342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96743A>G (TTN) | ENSP00000343764.6:p.Glu32248Gly | |
| ENST00000342175.11:c.77828A>G (TTN) | ENSP00000340554.6:p.Glu25943Gly | |
| ENST00000359218.10:c.77627A>G (TTN) | ENSP00000352154.5:p.Glu25876Gly | |
| ENST00000342175.10:c.77828A>G (TTN) | ENSP00000340554.6:p.Glu25943Gly | |
| ENST00000342992.10:c.96743A>G (TTN) | ENSP00000343764.6:p.Glu32248Gly | |
| ENST00000359218.9:c.77627A>G (TTN) | ENSP00000352154.5:p.Glu25876Gly | |
| ENST00000460472.6:c.77252A>G (TTN) | ENSP00000434586.1:p.Glu25751Gly | |
| ENST00000589042.5:c.104447A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu34816Gly | |
| ENST00000591111.5:c.99524A>G (TTN) | ENSP00000465570.1:p.Glu33175Gly | |
| ENST00000615779.4:c.99524A>G (TTN) | ENSP00000483597.1:p.Glu33175Gly | |
| NM_001256850.1:c.99524A>G (TTN) | NP_001243779.1:p.Glu33175Gly | |
| NM_001267550.2:c.104447A>G (TTN) MANE Select | NP_001254479.2:p.Glu34816Gly | |
| NM_003319.4:c.77252A>G (TTN) | NP_003310.4:p.Glu25751Gly | |
| NM_133378.4:c.96743A>G (TTN) | NP_596869.4:p.Glu32248Gly | |
| NM_133432.3:c.77627A>G (TTN) | NP_597676.3:p.Glu25876Gly | |
| NM_133437.4:c.77828A>G (TTN) | NP_597681.4:p.Glu25943Gly | |
| NR_038271.1:n.446+8532T>C (TTN-AS1) | ||
| NR_038272.1:n.220-3564T>C (TTN-AS1) | ||
| XM_011511729.1:c.103544A>G (TTN) | XP_011510031.1:p.Glu34515Gly | |
| XM_011511730.1:c.77438A>G (TTN) | XP_011510032.1:p.Glu25813Gly | |
| XM_011511731.1:c.77297A>G (TTN) | XP_011510033.1:p.Glu25766Gly | |
| XM_017004819.1:c.103340A>G (TTN) | XP_016860308.1:p.Glu34447Gly | |
| XM_017004820.1:c.98738A>G (TTN) | XP_016860309.1:p.Glu32913Gly | |
| XM_017004821.1:c.98735A>G (TTN) | XP_016860310.1:p.Glu32912Gly | |
| XM_017004822.1:c.95777A>G (TTN) | XP_016860311.1:p.Glu31926Gly | |
| XM_017004823.1:c.77393A>G (TTN) | XP_016860312.1:p.Glu25798Gly | |
| XM_024453094.1:c.98888A>G (TTN) | XP_024308862.1:p.Glu32963Gly | |
| XM_024453095.1:c.98885A>G (TTN) | XP_024308863.1:p.Glu32962Gly | |
| XM_024453096.1:c.98318A>G (TTN) | XP_024308864.1:p.Glu32773Gly | |
| XM_024453097.1:c.95660A>G (TTN) | XP_024308865.1:p.Glu31887Gly | |
| XM_024453098.1:c.95579A>G (TTN) | XP_024308866.1:p.Glu31860Gly | |
| XM_024453099.1:c.77342A>G (TTN) | XP_024308867.1:p.Glu25781Gly | |
| XM_024453100.1:c.67196A>G (TTN) | XP_024308868.1:p.Glu22399Gly |