Linked Data
ClinVar Variation Id:
202284
dbSNP Id:
rs202180775
ExAC:
2:179398646 G / A
gnomAD v2:
2-179398646-G-A
gnomAD v3:
2-178533919-G-A
gnomAD v4:
2-178533919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533919G>A , CM000664.2:g.178533919G>A | GRCh38 |
| NC_000002.11:g.179398646G>A , CM000664.1:g.179398646G>A | GRCh37 |
| NC_000002.10:g.179106892G>A | NCBI36 |
| NG_011618.3:g.301884C>T , LRG_391:g.301884C>T | |
| NG_051363.1:g.16093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94992C>T (TTN) | ENSP00000343764.6:p.Val31664= | |
| ENST00000342175.11:c.76077C>T (TTN) | ENSP00000340554.6:p.Val25359= | |
| ENST00000359218.10:c.75876C>T (TTN) | ENSP00000352154.5:p.Val25292= | |
| ENST00000342175.10:c.76077C>T (TTN) | ENSP00000340554.6:p.Val25359= | |
| ENST00000342992.10:c.94992C>T (TTN) | ENSP00000343764.6:p.Val31664= | |
| ENST00000359218.9:c.75876C>T (TTN) | ENSP00000352154.5:p.Val25292= | |
| ENST00000460472.6:c.75501C>T (TTN) | ENSP00000434586.1:p.Val25167= | |
| ENST00000589042.5:c.102696C>T (TTN) MANE Select | ENSP00000467141.1:p.Val34232= | |
| ENST00000591111.5:c.97773C>T (TTN) | ENSP00000465570.1:p.Val32591= | |
| ENST00000615779.4:c.97773C>T (TTN) | ENSP00000483597.1:p.Val32591= | |
| NM_001256850.1:c.97773C>T (TTN) | NP_001243779.1:p.Val32591= | |
| NM_001267550.2:c.102696C>T (TTN) MANE Select | NP_001254479.2:p.Val34232= | |
| NM_003319.4:c.75501C>T (TTN) | NP_003310.4:p.Val25167= | |
| NM_133378.4:c.94992C>T (TTN) | NP_596869.4:p.Val31664= | |
| NM_133432.3:c.75876C>T (TTN) | NP_597676.3:p.Val25292= | |
| NM_133437.4:c.76077C>T (TTN) | NP_597681.4:p.Val25359= | |
| NR_038271.1:n.446+10283G>A (TTN-AS1) | ||
| NR_038272.1:n.220-1813G>A (TTN-AS1) | ||
| XM_011511729.1:c.101793C>T (TTN) | XP_011510031.1:p.Val33931= | |
| XM_011511730.1:c.75687C>T (TTN) | XP_011510032.1:p.Val25229= | |
| XM_011511731.1:c.75546C>T (TTN) | XP_011510033.1:p.Val25182= | |
| XM_017004819.1:c.101589C>T (TTN) | XP_016860308.1:p.Val33863= | |
| XM_017004820.1:c.96987C>T (TTN) | XP_016860309.1:p.Val32329= | |
| XM_017004821.1:c.96984C>T (TTN) | XP_016860310.1:p.Val32328= | |
| XM_017004822.1:c.94026C>T (TTN) | XP_016860311.1:p.Val31342= | |
| XM_017004823.1:c.75642C>T (TTN) | XP_016860312.1:p.Val25214= | |
| XM_024453094.1:c.97137C>T (TTN) | XP_024308862.1:p.Val32379= | |
| XM_024453095.1:c.97134C>T (TTN) | XP_024308863.1:p.Val32378= | |
| XM_024453096.1:c.96567C>T (TTN) | XP_024308864.1:p.Val32189= | |
| XM_024453097.1:c.93909C>T (TTN) | XP_024308865.1:p.Val31303= | |
| XM_024453098.1:c.93828C>T (TTN) | XP_024308866.1:p.Val31276= | |
| XM_024453099.1:c.75591C>T (TTN) | XP_024308867.1:p.Val25197= | |
| XM_024453100.1:c.65445C>T (TTN) | XP_024308868.1:p.Val21815= |