Linked Data
ClinVar Variation Id:
332859
ClinVar RCV Id:
RCV000287871
RCV000295969
RCV000351115
RCV000385804
RCV000407698
RCV000869607
RCV003137953
dbSNP Id:
rs537428006
ExAC:
2:179484561 C / T
gnomAD v2:
2-179484561-C-T
gnomAD v3:
2-178619834-C-T
gnomAD v4:
2-178619834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178619834C>T , CM000664.2:g.178619834C>T | GRCh38 |
| NC_000002.11:g.179484561C>T , CM000664.1:g.179484561C>T | GRCh37 |
| NC_000002.10:g.179192806C>T | NCBI36 |
| NG_011618.3:g.215969G>A , LRG_391:g.215969G>A | |
| NG_051363.1:g.102008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38779G>A (TTN) | ENSP00000343764.6:p.Ala12927Thr | |
| ENST00000342175.11:c.19864G>A (TTN) | ENSP00000340554.6:p.Ala6622Thr | |
| ENST00000359218.10:c.19663G>A (TTN) | ENSP00000352154.5:p.Ala6555Thr | |
| ENST00000342175.10:c.19864G>A (TTN) | ENSP00000340554.6:p.Ala6622Thr | |
| ENST00000342992.10:c.38779G>A (TTN) | ENSP00000343764.6:p.Ala12927Thr | |
| ENST00000359218.9:c.19663G>A (TTN) | ENSP00000352154.5:p.Ala6555Thr | |
| ENST00000460472.6:c.19288G>A (TTN) | ENSP00000434586.1:p.Ala6430Thr | |
| ENST00000589042.5:c.46483G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala15495Thr | |
| ENST00000591111.5:c.41560G>A (TTN) | ENSP00000465570.1:p.Ala13854Thr | |
| ENST00000615779.4:c.41560G>A (TTN) | ENSP00000483597.1:p.Ala13854Thr | |
| NM_001256850.1:c.41560G>A (TTN) | NP_001243779.1:p.Ala13854Thr | |
| NM_001267550.2:c.46483G>A (TTN) MANE Select | NP_001254479.2:p.Ala15495Thr | |
| NM_003319.4:c.19288G>A (TTN) | NP_003310.4:p.Ala6430Thr | |
| NM_133378.4:c.38779G>A (TTN) | NP_596869.4:p.Ala12927Thr | |
| NM_133432.3:c.19663G>A (TTN) | NP_597676.3:p.Ala6555Thr | |
| NM_133437.4:c.19864G>A (TTN) | NP_597681.4:p.Ala6622Thr | |
| NR_038271.1:n.1686C>T (TTN-AS1) | ||
| XM_011511729.1:c.45580G>A (TTN) | XP_011510031.1:p.Ala15194Thr | |
| XM_011511730.1:c.19474G>A (TTN) | XP_011510032.1:p.Ala6492Thr | |
| XM_011511731.1:c.19333G>A (TTN) | XP_011510033.1:p.Ala6445Thr | |
| XM_017004819.1:c.45376G>A (TTN) | XP_016860308.1:p.Ala15126Thr | |
| XM_017004820.1:c.40774G>A (TTN) | XP_016860309.1:p.Ala13592Thr | |
| XM_017004821.1:c.40771G>A (TTN) | XP_016860310.1:p.Ala13591Thr | |
| XM_017004822.1:c.37813G>A (TTN) | XP_016860311.1:p.Ala12605Thr | |
| XM_017004823.1:c.19429G>A (TTN) | XP_016860312.1:p.Ala6477Thr | |
| XM_024453094.1:c.40924G>A (TTN) | XP_024308862.1:p.Ala13642Thr | |
| XM_024453095.1:c.40921G>A (TTN) | XP_024308863.1:p.Ala13641Thr | |
| XM_024453096.1:c.40354G>A (TTN) | XP_024308864.1:p.Ala13452Thr | |
| XM_024453097.1:c.37696G>A (TTN) | XP_024308865.1:p.Ala12566Thr | |
| XM_024453098.1:c.37615G>A (TTN) | XP_024308866.1:p.Ala12539Thr | |
| XM_024453099.1:c.19378G>A (TTN) | XP_024308867.1:p.Ala6460Thr | |
| XM_024453100.1:c.9232G>A (TTN) | XP_024308868.1:p.Ala3078Thr |