Linked Data
ClinVar Variation Id:
262342
dbSNP Id:
rs370476812
ExAC:
2:179395605 G / C
gnomAD v2:
2-179395605-G-C
gnomAD v3:
2-178530878-G-C
gnomAD v4:
2-178530878-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530878G>C , CM000664.2:g.178530878G>C | GRCh38 |
| NC_000002.11:g.179395605G>C , CM000664.1:g.179395605G>C | GRCh37 |
| NC_000002.10:g.179103851G>C | NCBI36 |
| NG_011618.3:g.304925C>G , LRG_391:g.304925C>G | |
| NG_051363.1:g.13052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98033C>G (TTN) | ENSP00000343764.6:p.Ala32678Gly | |
| ENST00000342175.11:c.79118C>G (TTN) | ENSP00000340554.6:p.Ala26373Gly | |
| ENST00000359218.10:c.78917C>G (TTN) | ENSP00000352154.5:p.Ala26306Gly | |
| ENST00000342175.10:c.79118C>G (TTN) | ENSP00000340554.6:p.Ala26373Gly | |
| ENST00000342992.10:c.98033C>G (TTN) | ENSP00000343764.6:p.Ala32678Gly | |
| ENST00000359218.9:c.78917C>G (TTN) | ENSP00000352154.5:p.Ala26306Gly | |
| ENST00000460472.6:c.78542C>G (TTN) | ENSP00000434586.1:p.Ala26181Gly | |
| ENST00000589042.5:c.105737C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala35246Gly | |
| ENST00000591111.5:c.100814C>G (TTN) | ENSP00000465570.1:p.Ala33605Gly | |
| ENST00000615779.4:c.100814C>G (TTN) | ENSP00000483597.1:p.Ala33605Gly | |
| NM_001256850.1:c.100814C>G (TTN) | NP_001243779.1:p.Ala33605Gly | |
| NM_001267550.2:c.105737C>G (TTN) MANE Select | NP_001254479.2:p.Ala35246Gly | |
| NM_003319.4:c.78542C>G (TTN) | NP_003310.4:p.Ala26181Gly | |
| NM_133378.4:c.98033C>G (TTN) | NP_596869.4:p.Ala32678Gly | |
| NM_133432.3:c.78917C>G (TTN) | NP_597676.3:p.Ala26306Gly | |
| NM_133437.4:c.79118C>G (TTN) | NP_597681.4:p.Ala26373Gly | |
| NR_038271.1:n.446+7242G>C (TTN-AS1) | ||
| NR_038272.1:n.220-4854G>C (TTN-AS1) | ||
| XM_011511729.1:c.104834C>G (TTN) | XP_011510031.1:p.Ala34945Gly | |
| XM_011511730.1:c.78728C>G (TTN) | XP_011510032.1:p.Ala26243Gly | |
| XM_011511731.1:c.78587C>G (TTN) | XP_011510033.1:p.Ala26196Gly | |
| XM_017004819.1:c.104630C>G (TTN) | XP_016860308.1:p.Ala34877Gly | |
| XM_017004820.1:c.100028C>G (TTN) | XP_016860309.1:p.Ala33343Gly | |
| XM_017004821.1:c.100025C>G (TTN) | XP_016860310.1:p.Ala33342Gly | |
| XM_017004822.1:c.97067C>G (TTN) | XP_016860311.1:p.Ala32356Gly | |
| XM_017004823.1:c.78683C>G (TTN) | XP_016860312.1:p.Ala26228Gly | |
| XM_024453094.1:c.100178C>G (TTN) | XP_024308862.1:p.Ala33393Gly | |
| XM_024453095.1:c.100175C>G (TTN) | XP_024308863.1:p.Ala33392Gly | |
| XM_024453096.1:c.99608C>G (TTN) | XP_024308864.1:p.Ala33203Gly | |
| XM_024453097.1:c.96950C>G (TTN) | XP_024308865.1:p.Ala32317Gly | |
| XM_024453098.1:c.96869C>G (TTN) | XP_024308866.1:p.Ala32290Gly | |
| XM_024453099.1:c.78632C>G (TTN) | XP_024308867.1:p.Ala26211Gly | |
| XM_024453100.1:c.68486C>G (TTN) | XP_024308868.1:p.Ala22829Gly |