Linked Data
ClinVar Variation Id:
238803
ClinVar RCV Id:
RCV000233526
RCV001135382
RCV001135381
RCV001135383
RCV001135384
RCV001135385
RCV003298295
RCV003137842
dbSNP Id:
rs375403059
ExAC:
2:179463752 G / A
gnomAD v2:
2-179463752-G-A
gnomAD v4:
2-178599025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599025G>A , CM000664.2:g.178599025G>A | GRCh38 |
| NC_000002.11:g.179463752G>A , CM000664.1:g.179463752G>A | GRCh37 |
| NC_000002.10:g.179171997G>A | NCBI36 |
| NG_011618.3:g.236778C>T , LRG_391:g.236778C>T | |
| NG_051363.1:g.81199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48981C>T (TTN) | ENSP00000343764.6:p.Ser16327= | |
| ENST00000342175.11:c.30066C>T (TTN) | ENSP00000340554.6:p.Ser10022= | |
| ENST00000359218.10:c.29865C>T (TTN) | ENSP00000352154.5:p.Ser9955= | |
| ENST00000342175.10:c.30066C>T (TTN) | ENSP00000340554.6:p.Ser10022= | |
| ENST00000342992.10:c.48981C>T (TTN) | ENSP00000343764.6:p.Ser16327= | |
| ENST00000359218.9:c.29865C>T (TTN) | ENSP00000352154.5:p.Ser9955= | |
| ENST00000460472.6:c.29490C>T (TTN) | ENSP00000434586.1:p.Ser9830= | |
| ENST00000589042.5:c.56685C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser18895= | |
| ENST00000591111.5:c.51762C>T (TTN) | ENSP00000465570.1:p.Ser17254= | |
| ENST00000615779.4:c.51762C>T (TTN) | ENSP00000483597.1:p.Ser17254= | |
| NM_001256850.1:c.51762C>T (TTN) | NP_001243779.1:p.Ser17254= | |
| NM_001267550.2:c.56685C>T (TTN) MANE Select | NP_001254479.2:p.Ser18895= | |
| NM_003319.4:c.29490C>T (TTN) | NP_003310.4:p.Ser9830= | |
| NM_133378.4:c.48981C>T (TTN) | NP_596869.4:p.Ser16327= | |
| NM_133432.3:c.29865C>T (TTN) | NP_597676.3:p.Ser9955= | |
| NM_133437.4:c.30066C>T (TTN) | NP_597681.4:p.Ser10022= | |
| NR_038271.1:n.682+1344G>A (TTN-AS1) | ||
| NR_038272.1:n.3568+352G>A (TTN-AS1) | ||
| XM_011511729.1:c.55782C>T (TTN) | XP_011510031.1:p.Ser18594= | |
| XM_011511730.1:c.29676C>T (TTN) | XP_011510032.1:p.Ser9892= | |
| XM_011511731.1:c.29535C>T (TTN) | XP_011510033.1:p.Ser9845= | |
| XM_017004819.1:c.55578C>T (TTN) | XP_016860308.1:p.Ser18526= | |
| XM_017004820.1:c.50976C>T (TTN) | XP_016860309.1:p.Ser16992= | |
| XM_017004821.1:c.50973C>T (TTN) | XP_016860310.1:p.Ser16991= | |
| XM_017004822.1:c.48015C>T (TTN) | XP_016860311.1:p.Ser16005= | |
| XM_017004823.1:c.29631C>T (TTN) | XP_016860312.1:p.Ser9877= | |
| XM_024453094.1:c.51126C>T (TTN) | XP_024308862.1:p.Ser17042= | |
| XM_024453095.1:c.51123C>T (TTN) | XP_024308863.1:p.Ser17041= | |
| XM_024453096.1:c.50556C>T (TTN) | XP_024308864.1:p.Ser16852= | |
| XM_024453097.1:c.47898C>T (TTN) | XP_024308865.1:p.Ser15966= | |
| XM_024453098.1:c.47817C>T (TTN) | XP_024308866.1:p.Ser15939= | |
| XM_024453099.1:c.29580C>T (TTN) | XP_024308867.1:p.Ser9860= | |
| XM_024453100.1:c.19434C>T (TTN) | XP_024308868.1:p.Ser6478= |