Linked Data
ClinVar Variation Id:
178184
ClinVar RCV Id:
RCV000154912
RCV000172232
RCV000260853
RCV000297223
RCV000314942
RCV000346437
RCV000391203
RCV000619231
RCV001082864
RCV003149944
dbSNP Id:
rs199929362
ExAC:
2:179428049 C / T
gnomAD v2:
2-179428049-C-T
gnomAD v3:
2-178563322-C-T
gnomAD v4:
2-178563322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563322C>T , CM000664.2:g.178563322C>T | GRCh38 |
| NC_000002.11:g.179428049C>T , CM000664.1:g.179428049C>T | GRCh37 |
| NC_000002.10:g.179136295C>T | NCBI36 |
| NG_011618.3:g.272481G>A , LRG_391:g.272481G>A | |
| NG_051363.1:g.45496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75106G>A (TTN) | ENSP00000343764.6:p.Gly25036Ser | |
| ENST00000342175.11:c.56191G>A (TTN) | ENSP00000340554.6:p.Gly18731Ser | |
| ENST00000359218.10:c.55990G>A (TTN) | ENSP00000352154.5:p.Gly18664Ser | |
| ENST00000342175.10:c.56191G>A (TTN) | ENSP00000340554.6:p.Gly18731Ser | |
| ENST00000342992.10:c.75106G>A (TTN) | ENSP00000343764.6:p.Gly25036Ser | |
| ENST00000359218.9:c.55990G>A (TTN) | ENSP00000352154.5:p.Gly18664Ser | |
| ENST00000460472.6:c.55615G>A (TTN) | ENSP00000434586.1:p.Gly18539Ser | |
| ENST00000589042.5:c.82810G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly27604Ser | |
| ENST00000591111.5:c.77887G>A (TTN) | ENSP00000465570.1:p.Gly25963Ser | |
| ENST00000615779.4:c.77887G>A (TTN) | ENSP00000483597.1:p.Gly25963Ser | |
| NM_001256850.1:c.77887G>A (TTN) | NP_001243779.1:p.Gly25963Ser | |
| NM_001267550.2:c.82810G>A (TTN) MANE Select | NP_001254479.2:p.Gly27604Ser | |
| NM_003319.4:c.55615G>A (TTN) | NP_003310.4:p.Gly18539Ser | |
| NM_133378.4:c.75106G>A (TTN) | NP_596869.4:p.Gly25036Ser | |
| NM_133432.3:c.55990G>A (TTN) | NP_597676.3:p.Gly18664Ser | |
| NM_133437.4:c.56191G>A (TTN) | NP_597681.4:p.Gly18731Ser | |
| NR_038271.1:n.447-7978C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19250C>T (TTN-AS1) | ||
| XM_011511729.1:c.81907G>A (TTN) | XP_011510031.1:p.Gly27303Ser | |
| XM_011511730.1:c.55801G>A (TTN) | XP_011510032.1:p.Gly18601Ser | |
| XM_011511731.1:c.55660G>A (TTN) | XP_011510033.1:p.Gly18554Ser | |
| XM_017004819.1:c.81703G>A (TTN) | XP_016860308.1:p.Gly27235Ser | |
| XM_017004820.1:c.77101G>A (TTN) | XP_016860309.1:p.Gly25701Ser | |
| XM_017004821.1:c.77098G>A (TTN) | XP_016860310.1:p.Gly25700Ser | |
| XM_017004822.1:c.74140G>A (TTN) | XP_016860311.1:p.Gly24714Ser | |
| XM_017004823.1:c.55756G>A (TTN) | XP_016860312.1:p.Gly18586Ser | |
| XM_024453094.1:c.77251G>A (TTN) | XP_024308862.1:p.Gly25751Ser | |
| XM_024453095.1:c.77248G>A (TTN) | XP_024308863.1:p.Gly25750Ser | |
| XM_024453096.1:c.76681G>A (TTN) | XP_024308864.1:p.Gly25561Ser | |
| XM_024453097.1:c.74023G>A (TTN) | XP_024308865.1:p.Gly24675Ser | |
| XM_024453098.1:c.73942G>A (TTN) | XP_024308866.1:p.Gly24648Ser | |
| XM_024453099.1:c.55705G>A (TTN) | XP_024308867.1:p.Gly18569Ser | |
| XM_024453100.1:c.45559G>A (TTN) | XP_024308868.1:p.Gly15187Ser |