Linked Data
ClinVar Variation Id:
203044
ClinVar RCV Id:
RCV000185057
RCV000292971
RCV000296474
RCV000338679
RCV000387180
RCV000351408
RCV000477773
RCV000766991
dbSNP Id:
rs746380940
ExAC:
2:179403702 G / A
gnomAD v2:
2-179403702-G-A
gnomAD v3:
2-178538975-G-A
gnomAD v4:
2-178538975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538975G>A , CM000664.2:g.178538975G>A | GRCh38 |
| NC_000002.11:g.179403702G>A , CM000664.1:g.179403702G>A | GRCh37 |
| NC_000002.10:g.179111948G>A | NCBI36 |
| NG_011618.3:g.296828C>T , LRG_391:g.296828C>T | |
| NG_051363.1:g.21149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91256C>T (TTN) | ENSP00000343764.6:p.Ser30419Phe | |
| ENST00000342175.11:c.72341C>T (TTN) | ENSP00000340554.6:p.Ser24114Phe | |
| ENST00000359218.10:c.72140C>T (TTN) | ENSP00000352154.5:p.Ser24047Phe | |
| ENST00000342175.10:c.72341C>T (TTN) | ENSP00000340554.6:p.Ser24114Phe | |
| ENST00000342992.10:c.91256C>T (TTN) | ENSP00000343764.6:p.Ser30419Phe | |
| ENST00000359218.9:c.72140C>T (TTN) | ENSP00000352154.5:p.Ser24047Phe | |
| ENST00000460472.6:c.71765C>T (TTN) | ENSP00000434586.1:p.Ser23922Phe | |
| ENST00000589042.5:c.98960C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser32987Phe | |
| ENST00000591111.5:c.94037C>T (TTN) | ENSP00000465570.1:p.Ser31346Phe | |
| ENST00000615779.4:c.94037C>T (TTN) | ENSP00000483597.1:p.Ser31346Phe | |
| NM_001256850.1:c.94037C>T (TTN) | NP_001243779.1:p.Ser31346Phe | |
| NM_001267550.2:c.98960C>T (TTN) MANE Select | NP_001254479.2:p.Ser32987Phe | |
| NM_003319.4:c.71765C>T (TTN) | NP_003310.4:p.Ser23922Phe | |
| NM_133378.4:c.91256C>T (TTN) | NP_596869.4:p.Ser30419Phe | |
| NM_133432.3:c.72140C>T (TTN) | NP_597676.3:p.Ser24047Phe | |
| NM_133437.4:c.72341C>T (TTN) | NP_597681.4:p.Ser24114Phe | |
| NR_038271.1:n.446+15339G>A (TTN-AS1) | ||
| NR_038272.1:n.925G>A (TTN-AS1) | ||
| XM_011511729.1:c.98057C>T (TTN) | XP_011510031.1:p.Ser32686Phe | |
| XM_011511730.1:c.71951C>T (TTN) | XP_011510032.1:p.Ser23984Phe | |
| XM_011511731.1:c.71810C>T (TTN) | XP_011510033.1:p.Ser23937Phe | |
| XM_017004819.1:c.97853C>T (TTN) | XP_016860308.1:p.Ser32618Phe | |
| XM_017004820.1:c.93251C>T (TTN) | XP_016860309.1:p.Ser31084Phe | |
| XM_017004821.1:c.93248C>T (TTN) | XP_016860310.1:p.Ser31083Phe | |
| XM_017004822.1:c.90290C>T (TTN) | XP_016860311.1:p.Ser30097Phe | |
| XM_017004823.1:c.71906C>T (TTN) | XP_016860312.1:p.Ser23969Phe | |
| XM_024453094.1:c.93401C>T (TTN) | XP_024308862.1:p.Ser31134Phe | |
| XM_024453095.1:c.93398C>T (TTN) | XP_024308863.1:p.Ser31133Phe | |
| XM_024453096.1:c.92831C>T (TTN) | XP_024308864.1:p.Ser30944Phe | |
| XM_024453097.1:c.90173C>T (TTN) | XP_024308865.1:p.Ser30058Phe | |
| XM_024453098.1:c.90092C>T (TTN) | XP_024308866.1:p.Ser30031Phe | |
| XM_024453099.1:c.71855C>T (TTN) | XP_024308867.1:p.Ser23952Phe | |
| XM_024453100.1:c.61709C>T (TTN) | XP_024308868.1:p.Ser20570Phe |