Linked Data
ClinVar Variation Id:
287619
ClinVar RCV Id:
RCV000287646
RCV000305887
RCV000345009
RCV000356141
RCV000384295
RCV000470403
RCV000621799
RCV001531498
RCV000403994
dbSNP Id:
rs3731753
ExAC:
2:179398289 G / A
gnomAD v2:
2-179398289-G-A
gnomAD v3:
2-178533562-G-A
gnomAD v4:
2-178533562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533562G>A , CM000664.2:g.178533562G>A | GRCh38 |
| NC_000002.11:g.179398289G>A , CM000664.1:g.179398289G>A | GRCh37 |
| NC_000002.10:g.179106535G>A | NCBI36 |
| NG_011618.3:g.302241C>T , LRG_391:g.302241C>T | |
| NG_051363.1:g.15736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95349C>T (TTN) | ENSP00000343764.6:p.Thr31783= | |
| ENST00000342175.11:c.76434C>T (TTN) | ENSP00000340554.6:p.Thr25478= | |
| ENST00000359218.10:c.76233C>T (TTN) | ENSP00000352154.5:p.Thr25411= | |
| ENST00000342175.10:c.76434C>T (TTN) | ENSP00000340554.6:p.Thr25478= | |
| ENST00000342992.10:c.95349C>T (TTN) | ENSP00000343764.6:p.Thr31783= | |
| ENST00000359218.9:c.76233C>T (TTN) | ENSP00000352154.5:p.Thr25411= | |
| ENST00000460472.6:c.75858C>T (TTN) | ENSP00000434586.1:p.Thr25286= | |
| ENST00000589042.5:c.103053C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr34351= | |
| ENST00000591111.5:c.98130C>T (TTN) | ENSP00000465570.1:p.Thr32710= | |
| ENST00000615779.4:c.98130C>T (TTN) | ENSP00000483597.1:p.Thr32710= | |
| NM_001256850.1:c.98130C>T (TTN) | NP_001243779.1:p.Thr32710= | |
| NM_001267550.2:c.103053C>T (TTN) MANE Select | NP_001254479.2:p.Thr34351= | |
| NM_003319.4:c.75858C>T (TTN) | NP_003310.4:p.Thr25286= | |
| NM_133378.4:c.95349C>T (TTN) | NP_596869.4:p.Thr31783= | |
| NM_133432.3:c.76233C>T (TTN) | NP_597676.3:p.Thr25411= | |
| NM_133437.4:c.76434C>T (TTN) | NP_597681.4:p.Thr25478= | |
| NR_038271.1:n.446+9926G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2170G>A (TTN-AS1) | ||
| XM_011511729.1:c.102150C>T (TTN) | XP_011510031.1:p.Thr34050= | |
| XM_011511730.1:c.76044C>T (TTN) | XP_011510032.1:p.Thr25348= | |
| XM_011511731.1:c.75903C>T (TTN) | XP_011510033.1:p.Thr25301= | |
| XM_017004819.1:c.101946C>T (TTN) | XP_016860308.1:p.Thr33982= | |
| XM_017004820.1:c.97344C>T (TTN) | XP_016860309.1:p.Thr32448= | |
| XM_017004821.1:c.97341C>T (TTN) | XP_016860310.1:p.Thr32447= | |
| XM_017004822.1:c.94383C>T (TTN) | XP_016860311.1:p.Thr31461= | |
| XM_017004823.1:c.75999C>T (TTN) | XP_016860312.1:p.Thr25333= | |
| XM_024453094.1:c.97494C>T (TTN) | XP_024308862.1:p.Thr32498= | |
| XM_024453095.1:c.97491C>T (TTN) | XP_024308863.1:p.Thr32497= | |
| XM_024453096.1:c.96924C>T (TTN) | XP_024308864.1:p.Thr32308= | |
| XM_024453097.1:c.94266C>T (TTN) | XP_024308865.1:p.Thr31422= | |
| XM_024453098.1:c.94185C>T (TTN) | XP_024308866.1:p.Thr31395= | |
| XM_024453099.1:c.75948C>T (TTN) | XP_024308867.1:p.Thr25316= | |
| XM_024453100.1:c.65802C>T (TTN) | XP_024308868.1:p.Thr21934= |