Linked Data
ClinVar Variation Id:
390758
dbSNP Id:
rs371763584
ExAC:
2:179422586 G / A
gnomAD v2:
2-179422586-G-A
gnomAD v3:
2-178557859-G-A
gnomAD v4:
2-178557859-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557859G>A , CM000664.2:g.178557859G>A | GRCh38 |
| NC_000002.11:g.179422586G>A , CM000664.1:g.179422586G>A | GRCh37 |
| NC_000002.10:g.179130832G>A | NCBI36 |
| NG_011618.3:g.277944C>T , LRG_391:g.277944C>T | |
| NG_051363.1:g.40033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79791C>T (TTN) | ENSP00000343764.6:p.Asp26597= | |
| ENST00000342175.11:c.60876C>T (TTN) | ENSP00000340554.6:p.Asp20292= | |
| ENST00000359218.10:c.60675C>T (TTN) | ENSP00000352154.5:p.Asp20225= | |
| ENST00000342175.10:c.60876C>T (TTN) | ENSP00000340554.6:p.Asp20292= | |
| ENST00000342992.10:c.79791C>T (TTN) | ENSP00000343764.6:p.Asp26597= | |
| ENST00000359218.9:c.60675C>T (TTN) | ENSP00000352154.5:p.Asp20225= | |
| ENST00000460472.6:c.60300C>T (TTN) | ENSP00000434586.1:p.Asp20100= | |
| ENST00000589042.5:c.87495C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp29165= | |
| ENST00000591111.5:c.82572C>T (TTN) | ENSP00000465570.1:p.Asp27524= | |
| ENST00000615779.4:c.82572C>T (TTN) | ENSP00000483597.1:p.Asp27524= | |
| NM_001256850.1:c.82572C>T (TTN) | NP_001243779.1:p.Asp27524= | |
| NM_001267550.2:c.87495C>T (TTN) MANE Select | NP_001254479.2:p.Asp29165= | |
| NM_003319.4:c.60300C>T (TTN) | NP_003310.4:p.Asp20100= | |
| NM_133378.4:c.79791C>T (TTN) | NP_596869.4:p.Asp26597= | |
| NM_133432.3:c.60675C>T (TTN) | NP_597676.3:p.Asp20225= | |
| NM_133437.4:c.60876C>T (TTN) | NP_597681.4:p.Asp20292= | |
| NR_038271.1:n.447-13441G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+15498G>A (TTN-AS1) | ||
| XM_011511729.1:c.86592C>T (TTN) | XP_011510031.1:p.Asp28864= | |
| XM_011511730.1:c.60486C>T (TTN) | XP_011510032.1:p.Asp20162= | |
| XM_011511731.1:c.60345C>T (TTN) | XP_011510033.1:p.Asp20115= | |
| XM_017004819.1:c.86388C>T (TTN) | XP_016860308.1:p.Asp28796= | |
| XM_017004820.1:c.81786C>T (TTN) | XP_016860309.1:p.Asp27262= | |
| XM_017004821.1:c.81783C>T (TTN) | XP_016860310.1:p.Asp27261= | |
| XM_017004822.1:c.78825C>T (TTN) | XP_016860311.1:p.Asp26275= | |
| XM_017004823.1:c.60441C>T (TTN) | XP_016860312.1:p.Asp20147= | |
| XM_024453094.1:c.81936C>T (TTN) | XP_024308862.1:p.Asp27312= | |
| XM_024453095.1:c.81933C>T (TTN) | XP_024308863.1:p.Asp27311= | |
| XM_024453096.1:c.81366C>T (TTN) | XP_024308864.1:p.Asp27122= | |
| XM_024453097.1:c.78708C>T (TTN) | XP_024308865.1:p.Asp26236= | |
| XM_024453098.1:c.78627C>T (TTN) | XP_024308866.1:p.Asp26209= | |
| XM_024453099.1:c.60390C>T (TTN) | XP_024308867.1:p.Asp20130= | |
| XM_024453100.1:c.50244C>T (TTN) | XP_024308868.1:p.Asp16748= |