Linked Data
ClinVar Variation Id:
497099
dbSNP Id:
rs373681189
ExAC:
2:179447078 T / A
gnomAD v2:
2-179447078-T-A
gnomAD v3:
2-178582351-T-A
gnomAD v4:
2-178582351-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582351T>A , CM000664.2:g.178582351T>A | GRCh38 |
| NC_000002.11:g.179447078T>A , CM000664.1:g.179447078T>A | GRCh37 |
| NC_000002.10:g.179155324T>A | NCBI36 |
| NG_011618.3:g.253452A>T , LRG_391:g.253452A>T | |
| NG_051363.1:g.64525T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58401A>T (TTN) | ENSP00000343764.6:p.Lys19467Asn | |
| ENST00000342175.11:c.39486A>T (TTN) | ENSP00000340554.6:p.Lys13162Asn | |
| ENST00000359218.10:c.39285A>T (TTN) | ENSP00000352154.5:p.Lys13095Asn | |
| ENST00000342175.10:c.39486A>T (TTN) | ENSP00000340554.6:p.Lys13162Asn | |
| ENST00000342992.10:c.58401A>T (TTN) | ENSP00000343764.6:p.Lys19467Asn | |
| ENST00000359218.9:c.39285A>T (TTN) | ENSP00000352154.5:p.Lys13095Asn | |
| ENST00000460472.6:c.38910A>T (TTN) | ENSP00000434586.1:p.Lys12970Asn | |
| ENST00000589042.5:c.66105A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys22035Asn | |
| ENST00000591111.5:c.61182A>T (TTN) | ENSP00000465570.1:p.Lys20394Asn | |
| ENST00000615779.4:c.61182A>T (TTN) | ENSP00000483597.1:p.Lys20394Asn | |
| NM_001256850.1:c.61182A>T (TTN) | NP_001243779.1:p.Lys20394Asn | |
| NM_001267550.2:c.66105A>T (TTN) MANE Select | NP_001254479.2:p.Lys22035Asn | |
| NM_003319.4:c.38910A>T (TTN) | NP_003310.4:p.Lys12970Asn | |
| NM_133378.4:c.58401A>T (TTN) | NP_596869.4:p.Lys19467Asn | |
| NM_133432.3:c.39285A>T (TTN) | NP_597676.3:p.Lys13095Asn | |
| NM_133437.4:c.39486A>T (TTN) | NP_597681.4:p.Lys13162Asn | |
| NR_038271.1:n.596+10902T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-221T>A (TTN-AS1) | ||
| XM_011511729.1:c.65202A>T (TTN) | XP_011510031.1:p.Lys21734Asn | |
| XM_011511730.1:c.39096A>T (TTN) | XP_011510032.1:p.Lys13032Asn | |
| XM_011511731.1:c.38955A>T (TTN) | XP_011510033.1:p.Lys12985Asn | |
| XM_017004819.1:c.64998A>T (TTN) | XP_016860308.1:p.Lys21666Asn | |
| XM_017004820.1:c.60396A>T (TTN) | XP_016860309.1:p.Lys20132Asn | |
| XM_017004821.1:c.60393A>T (TTN) | XP_016860310.1:p.Lys20131Asn | |
| XM_017004822.1:c.57435A>T (TTN) | XP_016860311.1:p.Lys19145Asn | |
| XM_017004823.1:c.39051A>T (TTN) | XP_016860312.1:p.Lys13017Asn | |
| XM_024453094.1:c.60546A>T (TTN) | XP_024308862.1:p.Lys20182Asn | |
| XM_024453095.1:c.60543A>T (TTN) | XP_024308863.1:p.Lys20181Asn | |
| XM_024453096.1:c.59976A>T (TTN) | XP_024308864.1:p.Lys19992Asn | |
| XM_024453097.1:c.57318A>T (TTN) | XP_024308865.1:p.Lys19106Asn | |
| XM_024453098.1:c.57237A>T (TTN) | XP_024308866.1:p.Lys19079Asn | |
| XM_024453099.1:c.39000A>T (TTN) | XP_024308867.1:p.Lys13000Asn | |
| XM_024453100.1:c.28854A>T (TTN) | XP_024308868.1:p.Lys9618Asn |