Linked Data
ClinVar Variation Id:
238789
dbSNP Id:
rs72677242
ExAC:
2:179479607 G / T
gnomAD v2:
2-179479607-G-T
gnomAD v3:
2-178614880-G-T
gnomAD v4:
2-178614880-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614880G>T , CM000664.2:g.178614880G>T | GRCh38 |
| NC_000002.11:g.179479607G>T , CM000664.1:g.179479607G>T | GRCh37 |
| NC_000002.10:g.179187852G>T | NCBI36 |
| NG_011618.3:g.220923C>A , LRG_391:g.220923C>A | |
| NG_051363.1:g.97054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41023C>A (TTN) | ENSP00000343764.6:p.Pro13675Thr | |
| ENST00000342175.11:c.22108C>A (TTN) | ENSP00000340554.6:p.Pro7370Thr | |
| ENST00000359218.10:c.21907C>A (TTN) | ENSP00000352154.5:p.Pro7303Thr | |
| ENST00000342175.10:c.22108C>A (TTN) | ENSP00000340554.6:p.Pro7370Thr | |
| ENST00000342992.10:c.41023C>A (TTN) | ENSP00000343764.6:p.Pro13675Thr | |
| ENST00000359218.9:c.21907C>A (TTN) | ENSP00000352154.5:p.Pro7303Thr | |
| ENST00000460472.6:c.21532C>A (TTN) | ENSP00000434586.1:p.Pro7178Thr | |
| ENST00000589042.5:c.48727C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro16243Thr | |
| ENST00000591111.5:c.43804C>A (TTN) | ENSP00000465570.1:p.Pro14602Thr | |
| ENST00000615779.4:c.43804C>A (TTN) | ENSP00000483597.1:p.Pro14602Thr | |
| NM_001256850.1:c.43804C>A (TTN) | NP_001243779.1:p.Pro14602Thr | |
| NM_001267550.2:c.48727C>A (TTN) MANE Select | NP_001254479.2:p.Pro16243Thr | |
| NM_003319.4:c.21532C>A (TTN) | NP_003310.4:p.Pro7178Thr | |
| NM_133378.4:c.41023C>A (TTN) | NP_596869.4:p.Pro13675Thr | |
| NM_133432.3:c.21907C>A (TTN) | NP_597676.3:p.Pro7303Thr | |
| NM_133437.4:c.22108C>A (TTN) | NP_597681.4:p.Pro7370Thr | |
| NR_038271.1:n.1552+76G>T (TTN-AS1) | ||
| XM_011511729.1:c.47824C>A (TTN) | XP_011510031.1:p.Pro15942Thr | |
| XM_011511730.1:c.21718C>A (TTN) | XP_011510032.1:p.Pro7240Thr | |
| XM_011511731.1:c.21577C>A (TTN) | XP_011510033.1:p.Pro7193Thr | |
| XM_017004819.1:c.47620C>A (TTN) | XP_016860308.1:p.Pro15874Thr | |
| XM_017004820.1:c.43018C>A (TTN) | XP_016860309.1:p.Pro14340Thr | |
| XM_017004821.1:c.43015C>A (TTN) | XP_016860310.1:p.Pro14339Thr | |
| XM_017004822.1:c.40057C>A (TTN) | XP_016860311.1:p.Pro13353Thr | |
| XM_017004823.1:c.21673C>A (TTN) | XP_016860312.1:p.Pro7225Thr | |
| XM_024453094.1:c.43168C>A (TTN) | XP_024308862.1:p.Pro14390Thr | |
| XM_024453095.1:c.43165C>A (TTN) | XP_024308863.1:p.Pro14389Thr | |
| XM_024453096.1:c.42598C>A (TTN) | XP_024308864.1:p.Pro14200Thr | |
| XM_024453097.1:c.39940C>A (TTN) | XP_024308865.1:p.Pro13314Thr | |
| XM_024453098.1:c.39859C>A (TTN) | XP_024308866.1:p.Pro13287Thr | |
| XM_024453099.1:c.21622C>A (TTN) | XP_024308867.1:p.Pro7208Thr | |
| XM_024453100.1:c.11476C>A (TTN) | XP_024308868.1:p.Pro3826Thr |