Linked Data
ClinVar Variation Id:
2939853
ClinVar RCV Id:
RCV003795019
dbSNP Id:
rs753077114
ExAC:
2:179396811 G / A
gnomAD v2:
2-179396811-G-A
gnomAD v4:
2-178532084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532084G>A , CM000664.2:g.178532084G>A | GRCh38 |
| NC_000002.11:g.179396811G>A , CM000664.1:g.179396811G>A | GRCh37 |
| NC_000002.10:g.179105057G>A | NCBI36 |
| NG_011618.3:g.303719C>T , LRG_391:g.303719C>T | |
| NG_051363.1:g.14258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96827C>T (TTN) | ENSP00000343764.6:p.Ser32276Phe | |
| ENST00000342175.11:c.77912C>T (TTN) | ENSP00000340554.6:p.Ser25971Phe | |
| ENST00000359218.10:c.77711C>T (TTN) | ENSP00000352154.5:p.Ser25904Phe | |
| ENST00000342175.10:c.77912C>T (TTN) | ENSP00000340554.6:p.Ser25971Phe | |
| ENST00000342992.10:c.96827C>T (TTN) | ENSP00000343764.6:p.Ser32276Phe | |
| ENST00000359218.9:c.77711C>T (TTN) | ENSP00000352154.5:p.Ser25904Phe | |
| ENST00000460472.6:c.77336C>T (TTN) | ENSP00000434586.1:p.Ser25779Phe | |
| ENST00000589042.5:c.104531C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser34844Phe | |
| ENST00000591111.5:c.99608C>T (TTN) | ENSP00000465570.1:p.Ser33203Phe | |
| ENST00000615779.4:c.99608C>T (TTN) | ENSP00000483597.1:p.Ser33203Phe | |
| NM_001256850.1:c.99608C>T (TTN) | NP_001243779.1:p.Ser33203Phe | |
| NM_001267550.2:c.104531C>T (TTN) MANE Select | NP_001254479.2:p.Ser34844Phe | |
| NM_003319.4:c.77336C>T (TTN) | NP_003310.4:p.Ser25779Phe | |
| NM_133378.4:c.96827C>T (TTN) | NP_596869.4:p.Ser32276Phe | |
| NM_133432.3:c.77711C>T (TTN) | NP_597676.3:p.Ser25904Phe | |
| NM_133437.4:c.77912C>T (TTN) | NP_597681.4:p.Ser25971Phe | |
| NR_038271.1:n.446+8448G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3648G>A (TTN-AS1) | ||
| XM_011511729.1:c.103628C>T (TTN) | XP_011510031.1:p.Ser34543Phe | |
| XM_011511730.1:c.77522C>T (TTN) | XP_011510032.1:p.Ser25841Phe | |
| XM_011511731.1:c.77381C>T (TTN) | XP_011510033.1:p.Ser25794Phe | |
| XM_017004819.1:c.103424C>T (TTN) | XP_016860308.1:p.Ser34475Phe | |
| XM_017004820.1:c.98822C>T (TTN) | XP_016860309.1:p.Ser32941Phe | |
| XM_017004821.1:c.98819C>T (TTN) | XP_016860310.1:p.Ser32940Phe | |
| XM_017004822.1:c.95861C>T (TTN) | XP_016860311.1:p.Ser31954Phe | |
| XM_017004823.1:c.77477C>T (TTN) | XP_016860312.1:p.Ser25826Phe | |
| XM_024453094.1:c.98972C>T (TTN) | XP_024308862.1:p.Ser32991Phe | |
| XM_024453095.1:c.98969C>T (TTN) | XP_024308863.1:p.Ser32990Phe | |
| XM_024453096.1:c.98402C>T (TTN) | XP_024308864.1:p.Ser32801Phe | |
| XM_024453097.1:c.95744C>T (TTN) | XP_024308865.1:p.Ser31915Phe | |
| XM_024453098.1:c.95663C>T (TTN) | XP_024308866.1:p.Ser31888Phe | |
| XM_024453099.1:c.77426C>T (TTN) | XP_024308867.1:p.Ser25809Phe | |
| XM_024453100.1:c.67280C>T (TTN) | XP_024308868.1:p.Ser22427Phe |