Linked Data
ClinVar Variation Id:
238795
dbSNP Id:
rs372419267
ExAC:
2:179475791 G / A
gnomAD v2:
2-179475791-G-A
gnomAD v3:
2-178611064-G-A
gnomAD v4:
2-178611064-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611064G>A , CM000664.2:g.178611064G>A | GRCh38 |
| NC_000002.11:g.179475791G>A , CM000664.1:g.179475791G>A | GRCh37 |
| NC_000002.10:g.179184036G>A | NCBI36 |
| NG_011618.3:g.224739C>T , LRG_391:g.224739C>T | |
| NG_051363.1:g.93238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43361C>T (TTN) | ENSP00000343764.6:p.Ala14454Val | |
| ENST00000342175.11:c.24446C>T (TTN) | ENSP00000340554.6:p.Ala8149Val | |
| ENST00000359218.10:c.24245C>T (TTN) | ENSP00000352154.5:p.Ala8082Val | |
| ENST00000342175.10:c.24446C>T (TTN) | ENSP00000340554.6:p.Ala8149Val | |
| ENST00000342992.10:c.43361C>T (TTN) | ENSP00000343764.6:p.Ala14454Val | |
| ENST00000359218.9:c.24245C>T (TTN) | ENSP00000352154.5:p.Ala8082Val | |
| ENST00000460472.6:c.23870C>T (TTN) | ENSP00000434586.1:p.Ala7957Val | |
| ENST00000589042.5:c.51065C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17022Val | |
| ENST00000591111.5:c.46142C>T (TTN) | ENSP00000465570.1:p.Ala15381Val | |
| ENST00000615779.4:c.46142C>T (TTN) | ENSP00000483597.1:p.Ala15381Val | |
| NM_001256850.1:c.46142C>T (TTN) | NP_001243779.1:p.Ala15381Val | |
| NM_001267550.2:c.51065C>T (TTN) MANE Select | NP_001254479.2:p.Ala17022Val | |
| NM_003319.4:c.23870C>T (TTN) | NP_003310.4:p.Ala7957Val | |
| NM_133378.4:c.43361C>T (TTN) | NP_596869.4:p.Ala14454Val | |
| NM_133432.3:c.24245C>T (TTN) | NP_597676.3:p.Ala8082Val | |
| NM_133437.4:c.24446C>T (TTN) | NP_597681.4:p.Ala8149Val | |
| NR_038271.1:n.782+2798G>A (TTN-AS1) | ||
| XM_011511729.1:c.50162C>T (TTN) | XP_011510031.1:p.Ala16721Val | |
| XM_011511730.1:c.24056C>T (TTN) | XP_011510032.1:p.Ala8019Val | |
| XM_011511731.1:c.23915C>T (TTN) | XP_011510033.1:p.Ala7972Val | |
| XM_017004819.1:c.49958C>T (TTN) | XP_016860308.1:p.Ala16653Val | |
| XM_017004820.1:c.45356C>T (TTN) | XP_016860309.1:p.Ala15119Val | |
| XM_017004821.1:c.45353C>T (TTN) | XP_016860310.1:p.Ala15118Val | |
| XM_017004822.1:c.42395C>T (TTN) | XP_016860311.1:p.Ala14132Val | |
| XM_017004823.1:c.24011C>T (TTN) | XP_016860312.1:p.Ala8004Val | |
| XM_024453094.1:c.45506C>T (TTN) | XP_024308862.1:p.Ala15169Val | |
| XM_024453095.1:c.45503C>T (TTN) | XP_024308863.1:p.Ala15168Val | |
| XM_024453096.1:c.44936C>T (TTN) | XP_024308864.1:p.Ala14979Val | |
| XM_024453097.1:c.42278C>T (TTN) | XP_024308865.1:p.Ala14093Val | |
| XM_024453098.1:c.42197C>T (TTN) | XP_024308866.1:p.Ala14066Val | |
| XM_024453099.1:c.23960C>T (TTN) | XP_024308867.1:p.Ala7987Val | |
| XM_024453100.1:c.13814C>T (TTN) | XP_024308868.1:p.Ala4605Val |