Linked Data
ClinVar Variation Id:
212459
dbSNP Id:
rs370649675
ExAC:
2:179391987 C / T
gnomAD v2:
2-179391987-C-T
gnomAD v3:
2-178527260-C-T
gnomAD v4:
2-178527260-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527260C>T , CM000664.2:g.178527260C>T | GRCh38 |
| NC_000002.11:g.179391987C>T , CM000664.1:g.179391987C>T | GRCh37 |
| NC_000002.10:g.179100233C>T | NCBI36 |
| NG_011618.3:g.308543G>A , LRG_391:g.308543G>A | |
| NG_051363.1:g.9434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100024G>A (TTN) | ENSP00000343764.6:p.Glu33342Lys | |
| ENST00000342175.11:c.81109G>A (TTN) | ENSP00000340554.6:p.Glu27037Lys | |
| ENST00000359218.10:c.80908G>A (TTN) | ENSP00000352154.5:p.Glu26970Lys | |
| ENST00000342175.10:c.81109G>A (TTN) | ENSP00000340554.6:p.Glu27037Lys | |
| ENST00000342992.10:c.100024G>A (TTN) | ENSP00000343764.6:p.Glu33342Lys | |
| ENST00000359218.9:c.80908G>A (TTN) | ENSP00000352154.5:p.Glu26970Lys | |
| ENST00000460472.6:c.80533G>A (TTN) | ENSP00000434586.1:p.Glu26845Lys | |
| ENST00000589042.5:c.107728G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu35910Lys | |
| ENST00000591111.5:c.102805G>A (TTN) | ENSP00000465570.1:p.Glu34269Lys | |
| ENST00000615779.4:c.102805G>A (TTN) | ENSP00000483597.1:p.Glu34269Lys | |
| NM_001256850.1:c.102805G>A (TTN) | NP_001243779.1:p.Glu34269Lys | |
| NM_001267550.2:c.107728G>A (TTN) MANE Select | NP_001254479.2:p.Glu35910Lys | |
| NM_003319.4:c.80533G>A (TTN) | NP_003310.4:p.Glu26845Lys | |
| NM_133378.4:c.100024G>A (TTN) | NP_596869.4:p.Glu33342Lys | |
| NM_133432.3:c.80908G>A (TTN) | NP_597676.3:p.Glu26970Lys | |
| NM_133437.4:c.81109G>A (TTN) | NP_597681.4:p.Glu27037Lys | |
| NR_038271.1:n.446+3624C>T (TTN-AS1) | ||
| NR_038272.1:n.219+3624C>T (TTN-AS1) | ||
| XM_011511729.1:c.106825G>A (TTN) | XP_011510031.1:p.Glu35609Lys | |
| XM_011511730.1:c.80719G>A (TTN) | XP_011510032.1:p.Glu26907Lys | |
| XM_011511731.1:c.80578G>A (TTN) | XP_011510033.1:p.Glu26860Lys | |
| XM_017004819.1:c.106621G>A (TTN) | XP_016860308.1:p.Glu35541Lys | |
| XM_017004820.1:c.102019G>A (TTN) | XP_016860309.1:p.Glu34007Lys | |
| XM_017004821.1:c.102016G>A (TTN) | XP_016860310.1:p.Glu34006Lys | |
| XM_017004822.1:c.99058G>A (TTN) | XP_016860311.1:p.Glu33020Lys | |
| XM_017004823.1:c.80674G>A (TTN) | XP_016860312.1:p.Glu26892Lys | |
| XM_024453094.1:c.102169G>A (TTN) | XP_024308862.1:p.Glu34057Lys | |
| XM_024453095.1:c.102166G>A (TTN) | XP_024308863.1:p.Glu34056Lys | |
| XM_024453096.1:c.101599G>A (TTN) | XP_024308864.1:p.Glu33867Lys | |
| XM_024453097.1:c.98941G>A (TTN) | XP_024308865.1:p.Glu32981Lys | |
| XM_024453098.1:c.98860G>A (TTN) | XP_024308866.1:p.Glu32954Lys | |
| XM_024453099.1:c.80623G>A (TTN) | XP_024308867.1:p.Glu26875Lys | |
| XM_024453100.1:c.70477G>A (TTN) | XP_024308868.1:p.Glu23493Lys |