Linked Data
ClinVar Variation Id:
196654
dbSNP Id:
rs794727543
gnomAD v2:
2-179399317-A-G
gnomAD v3:
2-178534590-A-G
gnomAD v4:
2-178534590-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534590A>G , CM000664.2:g.178534590A>G | GRCh38 |
| NC_000002.11:g.179399317A>G , CM000664.1:g.179399317A>G | GRCh37 |
| NC_000002.10:g.179107563A>G | NCBI36 |
| NG_011618.3:g.301213T>C , LRG_391:g.301213T>C | |
| NG_051363.1:g.16764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94321T>C (TTN) | ENSP00000343764.6:p.Leu31441= | |
| ENST00000342175.11:c.75406T>C (TTN) | ENSP00000340554.6:p.Leu25136= | |
| ENST00000359218.10:c.75205T>C (TTN) | ENSP00000352154.5:p.Leu25069= | |
| ENST00000342175.10:c.75406T>C (TTN) | ENSP00000340554.6:p.Leu25136= | |
| ENST00000342992.10:c.94321T>C (TTN) | ENSP00000343764.6:p.Leu31441= | |
| ENST00000359218.9:c.75205T>C (TTN) | ENSP00000352154.5:p.Leu25069= | |
| ENST00000460472.6:c.74830T>C (TTN) | ENSP00000434586.1:p.Leu24944= | |
| ENST00000589042.5:c.102025T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu34009= | |
| ENST00000591111.5:c.97102T>C (TTN) | ENSP00000465570.1:p.Leu32368= | |
| ENST00000615779.4:c.97102T>C (TTN) | ENSP00000483597.1:p.Leu32368= | |
| NM_001256850.1:c.97102T>C (TTN) | NP_001243779.1:p.Leu32368= | |
| NM_001267550.2:c.102025T>C (TTN) MANE Select | NP_001254479.2:p.Leu34009= | |
| NM_003319.4:c.74830T>C (TTN) | NP_003310.4:p.Leu24944= | |
| NM_133378.4:c.94321T>C (TTN) | NP_596869.4:p.Leu31441= | |
| NM_133432.3:c.75205T>C (TTN) | NP_597676.3:p.Leu25069= | |
| NM_133437.4:c.75406T>C (TTN) | NP_597681.4:p.Leu25136= | |
| NR_038271.1:n.446+10954A>G (TTN-AS1) | ||
| NR_038272.1:n.220-1142A>G (TTN-AS1) | ||
| XM_011511729.1:c.101122T>C (TTN) | XP_011510031.1:p.Leu33708= | |
| XM_011511730.1:c.75016T>C (TTN) | XP_011510032.1:p.Leu25006= | |
| XM_011511731.1:c.74875T>C (TTN) | XP_011510033.1:p.Leu24959= | |
| XM_017004819.1:c.100918T>C (TTN) | XP_016860308.1:p.Leu33640= | |
| XM_017004820.1:c.96316T>C (TTN) | XP_016860309.1:p.Leu32106= | |
| XM_017004821.1:c.96313T>C (TTN) | XP_016860310.1:p.Leu32105= | |
| XM_017004822.1:c.93355T>C (TTN) | XP_016860311.1:p.Leu31119= | |
| XM_017004823.1:c.74971T>C (TTN) | XP_016860312.1:p.Leu24991= | |
| XM_024453094.1:c.96466T>C (TTN) | XP_024308862.1:p.Leu32156= | |
| XM_024453095.1:c.96463T>C (TTN) | XP_024308863.1:p.Leu32155= | |
| XM_024453096.1:c.95896T>C (TTN) | XP_024308864.1:p.Leu31966= | |
| XM_024453097.1:c.93238T>C (TTN) | XP_024308865.1:p.Leu31080= | |
| XM_024453098.1:c.93157T>C (TTN) | XP_024308866.1:p.Leu31053= | |
| XM_024453099.1:c.74920T>C (TTN) | XP_024308867.1:p.Leu24974= | |
| XM_024453100.1:c.64774T>C (TTN) | XP_024308868.1:p.Leu21592= |