Linked Data
ClinVar Variation Id:
47423
dbSNP Id:
rs184643087
ExAC:
2:179427560 G / T
gnomAD v2:
2-179427560-G-T
gnomAD v3:
2-178562833-G-T
gnomAD v4:
2-178562833-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562833G>T , CM000664.2:g.178562833G>T | GRCh38 |
| NC_000002.11:g.179427560G>T , CM000664.1:g.179427560G>T | GRCh37 |
| NC_000002.10:g.179135806G>T | NCBI36 |
| NG_011618.3:g.272970C>A , LRG_391:g.272970C>A | |
| NG_051363.1:g.45007G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75595C>A (TTN) | ENSP00000343764.6:p.Pro25199Thr | |
| ENST00000342175.11:c.56680C>A (TTN) | ENSP00000340554.6:p.Pro18894Thr | |
| ENST00000359218.10:c.56479C>A (TTN) | ENSP00000352154.5:p.Pro18827Thr | |
| ENST00000342175.10:c.56680C>A (TTN) | ENSP00000340554.6:p.Pro18894Thr | |
| ENST00000342992.10:c.75595C>A (TTN) | ENSP00000343764.6:p.Pro25199Thr | |
| ENST00000359218.9:c.56479C>A (TTN) | ENSP00000352154.5:p.Pro18827Thr | |
| ENST00000460472.6:c.56104C>A (TTN) | ENSP00000434586.1:p.Pro18702Thr | |
| ENST00000589042.5:c.83299C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro27767Thr | |
| ENST00000591111.5:c.78376C>A (TTN) | ENSP00000465570.1:p.Pro26126Thr | |
| ENST00000615779.4:c.78376C>A (TTN) | ENSP00000483597.1:p.Pro26126Thr | |
| NM_001256850.1:c.78376C>A (TTN) | NP_001243779.1:p.Pro26126Thr | |
| NM_001267550.2:c.83299C>A (TTN) MANE Select | NP_001254479.2:p.Pro27767Thr | |
| NM_003319.4:c.56104C>A (TTN) | NP_003310.4:p.Pro18702Thr | |
| NM_133378.4:c.75595C>A (TTN) | NP_596869.4:p.Pro25199Thr | |
| NM_133432.3:c.56479C>A (TTN) | NP_597676.3:p.Pro18827Thr | |
| NM_133437.4:c.56680C>A (TTN) | NP_597681.4:p.Pro18894Thr | |
| NR_038271.1:n.447-8467G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19739G>T (TTN-AS1) | ||
| XM_011511729.1:c.82396C>A (TTN) | XP_011510031.1:p.Pro27466Thr | |
| XM_011511730.1:c.56290C>A (TTN) | XP_011510032.1:p.Pro18764Thr | |
| XM_011511731.1:c.56149C>A (TTN) | XP_011510033.1:p.Pro18717Thr | |
| XM_017004819.1:c.82192C>A (TTN) | XP_016860308.1:p.Pro27398Thr | |
| XM_017004820.1:c.77590C>A (TTN) | XP_016860309.1:p.Pro25864Thr | |
| XM_017004821.1:c.77587C>A (TTN) | XP_016860310.1:p.Pro25863Thr | |
| XM_017004822.1:c.74629C>A (TTN) | XP_016860311.1:p.Pro24877Thr | |
| XM_017004823.1:c.56245C>A (TTN) | XP_016860312.1:p.Pro18749Thr | |
| XM_024453094.1:c.77740C>A (TTN) | XP_024308862.1:p.Pro25914Thr | |
| XM_024453095.1:c.77737C>A (TTN) | XP_024308863.1:p.Pro25913Thr | |
| XM_024453096.1:c.77170C>A (TTN) | XP_024308864.1:p.Pro25724Thr | |
| XM_024453097.1:c.74512C>A (TTN) | XP_024308865.1:p.Pro24838Thr | |
| XM_024453098.1:c.74431C>A (TTN) | XP_024308866.1:p.Pro24811Thr | |
| XM_024453099.1:c.56194C>A (TTN) | XP_024308867.1:p.Pro18732Thr | |
| XM_024453100.1:c.46048C>A (TTN) | XP_024308868.1:p.Pro15350Thr |