Linked Data
ClinVar Variation Id:
2586566
dbSNP Id:
rs1290472359
gnomAD v2:
2-179483510-C-T
gnomAD v3:
2-178618783-C-T
gnomAD v4:
2-178618783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618783C>T , CM000664.2:g.178618783C>T | GRCh38 |
| NC_000002.11:g.179483510C>T , CM000664.1:g.179483510C>T | GRCh37 |
| NC_000002.10:g.179191755C>T | NCBI36 |
| NG_011618.3:g.217020G>A , LRG_391:g.217020G>A | |
| NG_051363.1:g.100957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39063G>A (TTN) | ENSP00000343764.6:p.Val13021= | |
| ENST00000342175.11:c.20148G>A (TTN) | ENSP00000340554.6:p.Val6716= | |
| ENST00000359218.10:c.19947G>A (TTN) | ENSP00000352154.5:p.Val6649= | |
| ENST00000342175.10:c.20148G>A (TTN) | ENSP00000340554.6:p.Val6716= | |
| ENST00000342992.10:c.39063G>A (TTN) | ENSP00000343764.6:p.Val13021= | |
| ENST00000359218.9:c.19947G>A (TTN) | ENSP00000352154.5:p.Val6649= | |
| ENST00000460472.6:c.19572G>A (TTN) | ENSP00000434586.1:p.Val6524= | |
| ENST00000589042.5:c.46767G>A (TTN) MANE Select | ENSP00000467141.1:p.Val15589= | |
| ENST00000591111.5:c.41844G>A (TTN) | ENSP00000465570.1:p.Val13948= | |
| ENST00000615779.4:c.41844G>A (TTN) | ENSP00000483597.1:p.Val13948= | |
| NM_001256850.1:c.41844G>A (TTN) | NP_001243779.1:p.Val13948= | |
| NM_001267550.2:c.46767G>A (TTN) MANE Select | NP_001254479.2:p.Val15589= | |
| NM_003319.4:c.19572G>A (TTN) | NP_003310.4:p.Val6524= | |
| NM_133378.4:c.39063G>A (TTN) | NP_596869.4:p.Val13021= | |
| NM_133432.3:c.19947G>A (TTN) | NP_597676.3:p.Val6649= | |
| NM_133437.4:c.20148G>A (TTN) | NP_597681.4:p.Val6716= | |
| NR_038271.1:n.1605-970C>T (TTN-AS1) | ||
| XM_011511729.1:c.45864G>A (TTN) | XP_011510031.1:p.Val15288= | |
| XM_011511730.1:c.19758G>A (TTN) | XP_011510032.1:p.Val6586= | |
| XM_011511731.1:c.19617G>A (TTN) | XP_011510033.1:p.Val6539= | |
| XM_017004819.1:c.45660G>A (TTN) | XP_016860308.1:p.Val15220= | |
| XM_017004820.1:c.41058G>A (TTN) | XP_016860309.1:p.Val13686= | |
| XM_017004821.1:c.41055G>A (TTN) | XP_016860310.1:p.Val13685= | |
| XM_017004822.1:c.38097G>A (TTN) | XP_016860311.1:p.Val12699= | |
| XM_017004823.1:c.19713G>A (TTN) | XP_016860312.1:p.Val6571= | |
| XM_024453094.1:c.41208G>A (TTN) | XP_024308862.1:p.Val13736= | |
| XM_024453095.1:c.41205G>A (TTN) | XP_024308863.1:p.Val13735= | |
| XM_024453096.1:c.40638G>A (TTN) | XP_024308864.1:p.Val13546= | |
| XM_024453097.1:c.37980G>A (TTN) | XP_024308865.1:p.Val12660= | |
| XM_024453098.1:c.37899G>A (TTN) | XP_024308866.1:p.Val12633= | |
| XM_024453099.1:c.19662G>A (TTN) | XP_024308867.1:p.Val6554= | |
| XM_024453100.1:c.9516G>A (TTN) | XP_024308868.1:p.Val3172= |