Linked Data
dbSNP Id:
rs753978233
ExAC:
2:179455844 G / A
gnomAD v2:
2-179455844-G-A
gnomAD v4:
2-178591117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591117G>A , CM000664.2:g.178591117G>A | GRCh38 |
| NC_000002.11:g.179455844G>A , CM000664.1:g.179455844G>A | GRCh37 |
| NC_000002.10:g.179164090G>A | NCBI36 |
| NG_011618.3:g.244686C>T , LRG_391:g.244686C>T | |
| NG_051363.1:g.73291G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.52904C>T (TTN) | ENSP00000343764.6:p.Pro17635Leu | |
| ENST00000342175.11:c.33989C>T (TTN) | ENSP00000340554.6:p.Pro11330Leu | |
| ENST00000359218.10:c.33788C>T (TTN) | ENSP00000352154.5:p.Pro11263Leu | |
| ENST00000342175.10:c.33989C>T (TTN) | ENSP00000340554.6:p.Pro11330Leu | |
| ENST00000342992.10:c.52904C>T (TTN) | ENSP00000343764.6:p.Pro17635Leu | |
| ENST00000359218.9:c.33788C>T (TTN) | ENSP00000352154.5:p.Pro11263Leu | |
| ENST00000460472.6:c.33413C>T (TTN) | ENSP00000434586.1:p.Pro11138Leu | |
| ENST00000589042.5:c.60608C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro20203Leu | |
| ENST00000591111.5:c.55685C>T (TTN) | ENSP00000465570.1:p.Pro18562Leu | |
| ENST00000615779.4:c.55685C>T (TTN) | ENSP00000483597.1:p.Pro18562Leu | |
| NM_001256850.1:c.55685C>T (TTN) | NP_001243779.1:p.Pro18562Leu | |
| NM_001267550.2:c.60608C>T (TTN) MANE Select | NP_001254479.2:p.Pro20203Leu | |
| NM_003319.4:c.33413C>T (TTN) | NP_003310.4:p.Pro11138Leu | |
| NM_133378.4:c.52904C>T (TTN) | NP_596869.4:p.Pro17635Leu | |
| NM_133432.3:c.33788C>T (TTN) | NP_597676.3:p.Pro11263Leu | |
| NM_133437.4:c.33989C>T (TTN) | NP_597681.4:p.Pro11330Leu | |
| NR_038271.1:n.597-6479G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-22G>A (TTN-AS1) | ||
| XM_011511729.1:c.59705C>T (TTN) | XP_011510031.1:p.Pro19902Leu | |
| XM_011511730.1:c.33599C>T (TTN) | XP_011510032.1:p.Pro11200Leu | |
| XM_011511731.1:c.33458C>T (TTN) | XP_011510033.1:p.Pro11153Leu | |
| XM_017004819.1:c.59501C>T (TTN) | XP_016860308.1:p.Pro19834Leu | |
| XM_017004820.1:c.54899C>T (TTN) | XP_016860309.1:p.Pro18300Leu | |
| XM_017004821.1:c.54896C>T (TTN) | XP_016860310.1:p.Pro18299Leu | |
| XM_017004822.1:c.51938C>T (TTN) | XP_016860311.1:p.Pro17313Leu | |
| XM_017004823.1:c.33554C>T (TTN) | XP_016860312.1:p.Pro11185Leu | |
| XM_024453094.1:c.55049C>T (TTN) | XP_024308862.1:p.Pro18350Leu | |
| XM_024453095.1:c.55046C>T (TTN) | XP_024308863.1:p.Pro18349Leu | |
| XM_024453096.1:c.54479C>T (TTN) | XP_024308864.1:p.Pro18160Leu | |
| XM_024453097.1:c.51821C>T (TTN) | XP_024308865.1:p.Pro17274Leu | |
| XM_024453098.1:c.51740C>T (TTN) | XP_024308866.1:p.Pro17247Leu | |
| XM_024453099.1:c.33503C>T (TTN) | XP_024308867.1:p.Pro11168Leu | |
| XM_024453100.1:c.23357C>T (TTN) | XP_024308868.1:p.Pro7786Leu |