Linked Data
ClinVar Variation Id:
332743
ClinVar RCV Id:
RCV000262973
RCV000312953
RCV000318136
RCV000475658
RCV000404886
RCV000622020
RCV000367646
RCV000436153
RCV003736725
dbSNP Id:
rs760858743
ExAC:
2:179424201 C / T
gnomAD v2:
2-179424201-C-T
gnomAD v3:
2-178559474-C-T
gnomAD v4:
2-178559474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559474C>T , CM000664.2:g.178559474C>T | GRCh38 |
| NC_000002.11:g.179424201C>T , CM000664.1:g.179424201C>T | GRCh37 |
| NC_000002.10:g.179132447C>T | NCBI36 |
| NG_011618.3:g.276329G>A , LRG_391:g.276329G>A | |
| NG_051363.1:g.41648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78954G>A (TTN) | ENSP00000343764.6:p.Glu26318= | |
| ENST00000342175.11:c.60039G>A (TTN) | ENSP00000340554.6:p.Glu20013= | |
| ENST00000359218.10:c.59838G>A (TTN) | ENSP00000352154.5:p.Glu19946= | |
| ENST00000342175.10:c.60039G>A (TTN) | ENSP00000340554.6:p.Glu20013= | |
| ENST00000342992.10:c.78954G>A (TTN) | ENSP00000343764.6:p.Glu26318= | |
| ENST00000359218.9:c.59838G>A (TTN) | ENSP00000352154.5:p.Glu19946= | |
| ENST00000460472.6:c.59463G>A (TTN) | ENSP00000434586.1:p.Glu19821= | |
| ENST00000589042.5:c.86658G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu28886= | |
| ENST00000591111.5:c.81735G>A (TTN) | ENSP00000465570.1:p.Glu27245= | |
| ENST00000615779.4:c.81735G>A (TTN) | ENSP00000483597.1:p.Glu27245= | |
| NM_001256850.1:c.81735G>A (TTN) | NP_001243779.1:p.Glu27245= | |
| NM_001267550.2:c.86658G>A (TTN) MANE Select | NP_001254479.2:p.Glu28886= | |
| NM_003319.4:c.59463G>A (TTN) | NP_003310.4:p.Glu19821= | |
| NM_133378.4:c.78954G>A (TTN) | NP_596869.4:p.Glu26318= | |
| NM_133432.3:c.59838G>A (TTN) | NP_597676.3:p.Glu19946= | |
| NM_133437.4:c.60039G>A (TTN) | NP_597681.4:p.Glu20013= | |
| NR_038271.1:n.447-11826C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17113C>T (TTN-AS1) | ||
| XM_011511729.1:c.85755G>A (TTN) | XP_011510031.1:p.Glu28585= | |
| XM_011511730.1:c.59649G>A (TTN) | XP_011510032.1:p.Glu19883= | |
| XM_011511731.1:c.59508G>A (TTN) | XP_011510033.1:p.Glu19836= | |
| XM_017004819.1:c.85551G>A (TTN) | XP_016860308.1:p.Glu28517= | |
| XM_017004820.1:c.80949G>A (TTN) | XP_016860309.1:p.Glu26983= | |
| XM_017004821.1:c.80946G>A (TTN) | XP_016860310.1:p.Glu26982= | |
| XM_017004822.1:c.77988G>A (TTN) | XP_016860311.1:p.Glu25996= | |
| XM_017004823.1:c.59604G>A (TTN) | XP_016860312.1:p.Glu19868= | |
| XM_024453094.1:c.81099G>A (TTN) | XP_024308862.1:p.Glu27033= | |
| XM_024453095.1:c.81096G>A (TTN) | XP_024308863.1:p.Glu27032= | |
| XM_024453096.1:c.80529G>A (TTN) | XP_024308864.1:p.Glu26843= | |
| XM_024453097.1:c.77871G>A (TTN) | XP_024308865.1:p.Glu25957= | |
| XM_024453098.1:c.77790G>A (TTN) | XP_024308866.1:p.Glu25930= | |
| XM_024453099.1:c.59553G>A (TTN) | XP_024308867.1:p.Glu19851= | |
| XM_024453100.1:c.49407G>A (TTN) | XP_024308868.1:p.Glu16469= |