Linked Data
ClinVar Variation Id:
497334
dbSNP Id:
rs55992239
ExAC:
2:179438185 G / A
gnomAD v2:
2-179438185-G-A
gnomAD v3:
2-178573458-G-A
gnomAD v4:
2-178573458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573458G>A , CM000664.2:g.178573458G>A | GRCh38 |
| NC_000002.11:g.179438185G>A , CM000664.1:g.179438185G>A | GRCh37 |
| NC_000002.10:g.179146431G>A | NCBI36 |
| NG_011618.3:g.262345C>T , LRG_391:g.262345C>T | |
| NG_051363.1:g.55632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64970C>T (TTN) | ENSP00000343764.6:p.Pro21657Leu | |
| ENST00000342175.11:c.46055C>T (TTN) | ENSP00000340554.6:p.Pro15352Leu | |
| ENST00000359218.10:c.45854C>T (TTN) | ENSP00000352154.5:p.Pro15285Leu | |
| ENST00000342175.10:c.46055C>T (TTN) | ENSP00000340554.6:p.Pro15352Leu | |
| ENST00000342992.10:c.64970C>T (TTN) | ENSP00000343764.6:p.Pro21657Leu | |
| ENST00000359218.9:c.45854C>T (TTN) | ENSP00000352154.5:p.Pro15285Leu | |
| ENST00000460472.6:c.45479C>T (TTN) | ENSP00000434586.1:p.Pro15160Leu | |
| ENST00000589042.5:c.72674C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro24225Leu | |
| ENST00000591111.5:c.67751C>T (TTN) | ENSP00000465570.1:p.Pro22584Leu | |
| ENST00000615779.4:c.67751C>T (TTN) | ENSP00000483597.1:p.Pro22584Leu | |
| NM_001256850.1:c.67751C>T (TTN) | NP_001243779.1:p.Pro22584Leu | |
| NM_001267550.2:c.72674C>T (TTN) MANE Select | NP_001254479.2:p.Pro24225Leu | |
| NM_003319.4:c.45479C>T (TTN) | NP_003310.4:p.Pro15160Leu | |
| NM_133378.4:c.64970C>T (TTN) | NP_596869.4:p.Pro21657Leu | |
| NM_133432.3:c.45854C>T (TTN) | NP_597676.3:p.Pro15285Leu | |
| NM_133437.4:c.46055C>T (TTN) | NP_597681.4:p.Pro15352Leu | |
| NR_038271.1:n.596+2009G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-9114G>A (TTN-AS1) | ||
| XM_011511729.1:c.71771C>T (TTN) | XP_011510031.1:p.Pro23924Leu | |
| XM_011511730.1:c.45665C>T (TTN) | XP_011510032.1:p.Pro15222Leu | |
| XM_011511731.1:c.45524C>T (TTN) | XP_011510033.1:p.Pro15175Leu | |
| XM_017004819.1:c.71567C>T (TTN) | XP_016860308.1:p.Pro23856Leu | |
| XM_017004820.1:c.66965C>T (TTN) | XP_016860309.1:p.Pro22322Leu | |
| XM_017004821.1:c.66962C>T (TTN) | XP_016860310.1:p.Pro22321Leu | |
| XM_017004822.1:c.64004C>T (TTN) | XP_016860311.1:p.Pro21335Leu | |
| XM_017004823.1:c.45620C>T (TTN) | XP_016860312.1:p.Pro15207Leu | |
| XM_024453094.1:c.67115C>T (TTN) | XP_024308862.1:p.Pro22372Leu | |
| XM_024453095.1:c.67112C>T (TTN) | XP_024308863.1:p.Pro22371Leu | |
| XM_024453096.1:c.66545C>T (TTN) | XP_024308864.1:p.Pro22182Leu | |
| XM_024453097.1:c.63887C>T (TTN) | XP_024308865.1:p.Pro21296Leu | |
| XM_024453098.1:c.63806C>T (TTN) | XP_024308866.1:p.Pro21269Leu | |
| XM_024453099.1:c.45569C>T (TTN) | XP_024308867.1:p.Pro15190Leu | |
| XM_024453100.1:c.35423C>T (TTN) | XP_024308868.1:p.Pro11808Leu |