Linked Data
ClinVar Variation Id:
202399
dbSNP Id:
rs794729280
gnomAD v2:
2-179449279-G-A
gnomAD v4:
2-178584552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584552G>A , CM000664.2:g.178584552G>A | GRCh38 |
| NC_000002.11:g.179449279G>A , CM000664.1:g.179449279G>A | GRCh37 |
| NC_000002.10:g.179157525G>A | NCBI36 |
| NG_011618.3:g.251251C>T , LRG_391:g.251251C>T | |
| NG_051363.1:g.66726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57295C>T (TTN) | ENSP00000343764.6:p.Arg19099Ter | |
| ENST00000342175.11:c.38380C>T (TTN) | ENSP00000340554.6:p.Arg12794Ter | |
| ENST00000359218.10:c.38179C>T (TTN) | ENSP00000352154.5:p.Arg12727Ter | |
| ENST00000342175.10:c.38380C>T (TTN) | ENSP00000340554.6:p.Arg12794Ter | |
| ENST00000342992.10:c.57295C>T (TTN) | ENSP00000343764.6:p.Arg19099Ter | |
| ENST00000359218.9:c.38179C>T (TTN) | ENSP00000352154.5:p.Arg12727Ter | |
| ENST00000460472.6:c.37804C>T (TTN) | ENSP00000434586.1:p.Arg12602Ter | |
| ENST00000589042.5:c.64999C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21667Ter | |
| ENST00000591111.5:c.60076C>T (TTN) | ENSP00000465570.1:p.Arg20026Ter | |
| ENST00000615779.4:c.60076C>T (TTN) | ENSP00000483597.1:p.Arg20026Ter | |
| NM_001256850.1:c.60076C>T (TTN) | NP_001243779.1:p.Arg20026Ter | |
| NM_001267550.2:c.64999C>T (TTN) MANE Select | NP_001254479.2:p.Arg21667Ter | |
| NM_003319.4:c.37804C>T (TTN) | NP_003310.4:p.Arg12602Ter | |
| NM_133378.4:c.57295C>T (TTN) | NP_596869.4:p.Arg19099Ter | |
| NM_133432.3:c.38179C>T (TTN) | NP_597676.3:p.Arg12727Ter | |
| NM_133437.4:c.38380C>T (TTN) | NP_597681.4:p.Arg12794Ter | |
| NR_038271.1:n.597-13044G>A (TTN-AS1) | ||
| NR_038272.1:n.2768-21G>A (TTN-AS1) | ||
| XM_011511729.1:c.64096C>T (TTN) | XP_011510031.1:p.Arg21366Ter | |
| XM_011511730.1:c.37990C>T (TTN) | XP_011510032.1:p.Arg12664Ter | |
| XM_011511731.1:c.37849C>T (TTN) | XP_011510033.1:p.Arg12617Ter | |
| XM_017004819.1:c.63892C>T (TTN) | XP_016860308.1:p.Arg21298Ter | |
| XM_017004820.1:c.59290C>T (TTN) | XP_016860309.1:p.Arg19764Ter | |
| XM_017004821.1:c.59287C>T (TTN) | XP_016860310.1:p.Arg19763Ter | |
| XM_017004822.1:c.56329C>T (TTN) | XP_016860311.1:p.Arg18777Ter | |
| XM_017004823.1:c.37945C>T (TTN) | XP_016860312.1:p.Arg12649Ter | |
| XM_024453094.1:c.59440C>T (TTN) | XP_024308862.1:p.Arg19814Ter | |
| XM_024453095.1:c.59437C>T (TTN) | XP_024308863.1:p.Arg19813Ter | |
| XM_024453096.1:c.58870C>T (TTN) | XP_024308864.1:p.Arg19624Ter | |
| XM_024453097.1:c.56212C>T (TTN) | XP_024308865.1:p.Arg18738Ter | |
| XM_024453098.1:c.56131C>T (TTN) | XP_024308866.1:p.Arg18711Ter | |
| XM_024453099.1:c.37894C>T (TTN) | XP_024308867.1:p.Arg12632Ter | |
| XM_024453100.1:c.27748C>T (TTN) | XP_024308868.1:p.Arg9250Ter |