Linked Data
ClinVar Variation Id:
47152
ClinVar RCV Id:
RCV000040422
RCV000251749
RCV000272566
RCV000287679
RCV000318624
RCV000327585
RCV000375581
RCV000993461
RCV001513456
dbSNP Id:
rs16866406
ExAC:
2:179457147 G / A
gnomAD v2:
2-179457147-G-A
gnomAD v3:
2-178592420-G-A
gnomAD v4:
2-178592420-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592420G>A , CM000664.2:g.178592420G>A | GRCh38 |
| NC_000002.11:g.179457147G>A , CM000664.1:g.179457147G>A | GRCh37 |
| NC_000002.10:g.179165393G>A | NCBI36 |
| NG_011618.3:g.243383C>T , LRG_391:g.243383C>T | |
| NG_051363.1:g.74594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51881C>T (TTN) | ENSP00000343764.6:p.Pro17294Leu | |
| ENST00000342175.11:c.32966C>T (TTN) | ENSP00000340554.6:p.Pro10989Leu | |
| ENST00000359218.10:c.32765C>T (TTN) | ENSP00000352154.5:p.Pro10922Leu | |
| ENST00000342175.10:c.32966C>T (TTN) | ENSP00000340554.6:p.Pro10989Leu | |
| ENST00000342992.10:c.51881C>T (TTN) | ENSP00000343764.6:p.Pro17294Leu | |
| ENST00000359218.9:c.32765C>T (TTN) | ENSP00000352154.5:p.Pro10922Leu | |
| ENST00000460472.6:c.32390C>T (TTN) | ENSP00000434586.1:p.Pro10797Leu | |
| ENST00000589042.5:c.59585C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro19862Leu | |
| ENST00000591111.5:c.54662C>T (TTN) | ENSP00000465570.1:p.Pro18221Leu | |
| ENST00000615779.4:c.54662C>T (TTN) | ENSP00000483597.1:p.Pro18221Leu | |
| NM_001256850.1:c.54662C>T (TTN) | NP_001243779.1:p.Pro18221Leu | |
| NM_001267550.2:c.59585C>T (TTN) MANE Select | NP_001254479.2:p.Pro19862Leu | |
| NM_003319.4:c.32390C>T (TTN) | NP_003310.4:p.Pro10797Leu | |
| NM_133378.4:c.51881C>T (TTN) | NP_596869.4:p.Pro17294Leu | |
| NM_133432.3:c.32765C>T (TTN) | NP_597676.3:p.Pro10922Leu | |
| NM_133437.4:c.32966C>T (TTN) | NP_597681.4:p.Pro10989Leu | |
| NR_038271.1:n.597-5176G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1106G>A (TTN-AS1) | ||
| XM_011511729.1:c.58682C>T (TTN) | XP_011510031.1:p.Pro19561Leu | |
| XM_011511730.1:c.32576C>T (TTN) | XP_011510032.1:p.Pro10859Leu | |
| XM_011511731.1:c.32435C>T (TTN) | XP_011510033.1:p.Pro10812Leu | |
| XM_017004819.1:c.58478C>T (TTN) | XP_016860308.1:p.Pro19493Leu | |
| XM_017004820.1:c.53876C>T (TTN) | XP_016860309.1:p.Pro17959Leu | |
| XM_017004821.1:c.53873C>T (TTN) | XP_016860310.1:p.Pro17958Leu | |
| XM_017004822.1:c.50915C>T (TTN) | XP_016860311.1:p.Pro16972Leu | |
| XM_017004823.1:c.32531C>T (TTN) | XP_016860312.1:p.Pro10844Leu | |
| XM_024453094.1:c.54026C>T (TTN) | XP_024308862.1:p.Pro18009Leu | |
| XM_024453095.1:c.54023C>T (TTN) | XP_024308863.1:p.Pro18008Leu | |
| XM_024453096.1:c.53456C>T (TTN) | XP_024308864.1:p.Pro17819Leu | |
| XM_024453097.1:c.50798C>T (TTN) | XP_024308865.1:p.Pro16933Leu | |
| XM_024453098.1:c.50717C>T (TTN) | XP_024308866.1:p.Pro16906Leu | |
| XM_024453099.1:c.32480C>T (TTN) | XP_024308867.1:p.Pro10827Leu | |
| XM_024453100.1:c.22334C>T (TTN) | XP_024308868.1:p.Pro7445Leu |