Linked Data
ClinVar Variation Id:
47230
ClinVar RCV Id:
RCV000040500
RCV000225958
RCV000274823
RCV000326526
RCV000369611
RCV000329910
RCV000384695
RCV000768957
RCV000621981
RCV001529138
dbSNP Id:
rs72646867
ExAC:
2:179447755 G / A
gnomAD v2:
2-179447755-G-A
gnomAD v3:
2-178583028-G-A
gnomAD v4:
2-178583028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583028G>A , CM000664.2:g.178583028G>A | GRCh38 |
| NC_000002.11:g.179447755G>A , CM000664.1:g.179447755G>A | GRCh37 |
| NC_000002.10:g.179156001G>A | NCBI36 |
| NG_011618.3:g.252775C>T , LRG_391:g.252775C>T | |
| NG_051363.1:g.65202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58071C>T (TTN) | ENSP00000343764.6:p.Ser19357= | |
| ENST00000342175.11:c.39156C>T (TTN) | ENSP00000340554.6:p.Ser13052= | |
| ENST00000359218.10:c.38955C>T (TTN) | ENSP00000352154.5:p.Ser12985= | |
| ENST00000342175.10:c.39156C>T (TTN) | ENSP00000340554.6:p.Ser13052= | |
| ENST00000342992.10:c.58071C>T (TTN) | ENSP00000343764.6:p.Ser19357= | |
| ENST00000359218.9:c.38955C>T (TTN) | ENSP00000352154.5:p.Ser12985= | |
| ENST00000460472.6:c.38580C>T (TTN) | ENSP00000434586.1:p.Ser12860= | |
| ENST00000589042.5:c.65775C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser21925= | |
| ENST00000591111.5:c.60852C>T (TTN) | ENSP00000465570.1:p.Ser20284= | |
| ENST00000615779.4:c.60852C>T (TTN) | ENSP00000483597.1:p.Ser20284= | |
| NM_001256850.1:c.60852C>T (TTN) | NP_001243779.1:p.Ser20284= | |
| NM_001267550.2:c.65775C>T (TTN) MANE Select | NP_001254479.2:p.Ser21925= | |
| NM_003319.4:c.38580C>T (TTN) | NP_003310.4:p.Ser12860= | |
| NM_133378.4:c.58071C>T (TTN) | NP_596869.4:p.Ser19357= | |
| NM_133432.3:c.38955C>T (TTN) | NP_597676.3:p.Ser12985= | |
| NM_133437.4:c.39156C>T (TTN) | NP_597681.4:p.Ser13052= | |
| NR_038271.1:n.596+11579G>A (TTN-AS1) | ||
| NR_038272.1:n.2216G>A (TTN-AS1) | ||
| XM_011511729.1:c.64872C>T (TTN) | XP_011510031.1:p.Ser21624= | |
| XM_011511730.1:c.38766C>T (TTN) | XP_011510032.1:p.Ser12922= | |
| XM_011511731.1:c.38625C>T (TTN) | XP_011510033.1:p.Ser12875= | |
| XM_017004819.1:c.64668C>T (TTN) | XP_016860308.1:p.Ser21556= | |
| XM_017004820.1:c.60066C>T (TTN) | XP_016860309.1:p.Ser20022= | |
| XM_017004821.1:c.60063C>T (TTN) | XP_016860310.1:p.Ser20021= | |
| XM_017004822.1:c.57105C>T (TTN) | XP_016860311.1:p.Ser19035= | |
| XM_017004823.1:c.38721C>T (TTN) | XP_016860312.1:p.Ser12907= | |
| XM_024453094.1:c.60216C>T (TTN) | XP_024308862.1:p.Ser20072= | |
| XM_024453095.1:c.60213C>T (TTN) | XP_024308863.1:p.Ser20071= | |
| XM_024453096.1:c.59646C>T (TTN) | XP_024308864.1:p.Ser19882= | |
| XM_024453097.1:c.56988C>T (TTN) | XP_024308865.1:p.Ser18996= | |
| XM_024453098.1:c.56907C>T (TTN) | XP_024308866.1:p.Ser18969= | |
| XM_024453099.1:c.38670C>T (TTN) | XP_024308867.1:p.Ser12890= | |
| XM_024453100.1:c.28524C>T (TTN) | XP_024308868.1:p.Ser9508= |