Linked Data
ClinVar Variation Id:
332731
ClinVar RCV Id:
RCV000262504
RCV000296494
RCV000331575
RCV000332733
RCV000386114
RCV001570054
RCV002365395
dbSNP Id:
rs376634713
ExAC:
2:179415885 C / T
gnomAD v2:
2-179415885-C-T
gnomAD v3:
2-178551158-C-T
gnomAD v4:
2-178551158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551158C>T , CM000664.2:g.178551158C>T | GRCh38 |
| NC_000002.11:g.179415885C>T , CM000664.1:g.179415885C>T | GRCh37 |
| NC_000002.10:g.179124131C>T | NCBI36 |
| NG_011618.3:g.284645G>A , LRG_391:g.284645G>A | |
| NG_051363.1:g.33332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83669G>A (TTN) | ENSP00000343764.6:p.Ser27890Asn | |
| ENST00000342175.11:c.64754G>A (TTN) | ENSP00000340554.6:p.Ser21585Asn | |
| ENST00000359218.10:c.64553G>A (TTN) | ENSP00000352154.5:p.Ser21518Asn | |
| ENST00000342175.10:c.64754G>A (TTN) | ENSP00000340554.6:p.Ser21585Asn | |
| ENST00000342992.10:c.83669G>A (TTN) | ENSP00000343764.6:p.Ser27890Asn | |
| ENST00000359218.9:c.64553G>A (TTN) | ENSP00000352154.5:p.Ser21518Asn | |
| ENST00000460472.6:c.64178G>A (TTN) | ENSP00000434586.1:p.Ser21393Asn | |
| ENST00000589042.5:c.91373G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser30458Asn | |
| ENST00000591111.5:c.86450G>A (TTN) | ENSP00000465570.1:p.Ser28817Asn | |
| ENST00000615779.4:c.86450G>A (TTN) | ENSP00000483597.1:p.Ser28817Asn | |
| NM_001256850.1:c.86450G>A (TTN) | NP_001243779.1:p.Ser28817Asn | |
| NM_001267550.2:c.91373G>A (TTN) MANE Select | NP_001254479.2:p.Ser30458Asn | |
| NM_003319.4:c.64178G>A (TTN) | NP_003310.4:p.Ser21393Asn | |
| NM_133378.4:c.83669G>A (TTN) | NP_596869.4:p.Ser27890Asn | |
| NM_133432.3:c.64553G>A (TTN) | NP_597676.3:p.Ser21518Asn | |
| NM_133437.4:c.64754G>A (TTN) | NP_597681.4:p.Ser21585Asn | |
| NR_038271.1:n.447-20142C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+8797C>T (TTN-AS1) | ||
| XM_011511729.1:c.90470G>A (TTN) | XP_011510031.1:p.Ser30157Asn | |
| XM_011511730.1:c.64364G>A (TTN) | XP_011510032.1:p.Ser21455Asn | |
| XM_011511731.1:c.64223G>A (TTN) | XP_011510033.1:p.Ser21408Asn | |
| XM_017004819.1:c.90266G>A (TTN) | XP_016860308.1:p.Ser30089Asn | |
| XM_017004820.1:c.85664G>A (TTN) | XP_016860309.1:p.Ser28555Asn | |
| XM_017004821.1:c.85661G>A (TTN) | XP_016860310.1:p.Ser28554Asn | |
| XM_017004822.1:c.82703G>A (TTN) | XP_016860311.1:p.Ser27568Asn | |
| XM_017004823.1:c.64319G>A (TTN) | XP_016860312.1:p.Ser21440Asn | |
| XM_024453094.1:c.85814G>A (TTN) | XP_024308862.1:p.Ser28605Asn | |
| XM_024453095.1:c.85811G>A (TTN) | XP_024308863.1:p.Ser28604Asn | |
| XM_024453096.1:c.85244G>A (TTN) | XP_024308864.1:p.Ser28415Asn | |
| XM_024453097.1:c.82586G>A (TTN) | XP_024308865.1:p.Ser27529Asn | |
| XM_024453098.1:c.82505G>A (TTN) | XP_024308866.1:p.Ser27502Asn | |
| XM_024453099.1:c.64268G>A (TTN) | XP_024308867.1:p.Ser21423Asn | |
| XM_024453100.1:c.54122G>A (TTN) | XP_024308868.1:p.Ser18041Asn |