Linked Data
ClinVar Variation Id:
203112
dbSNP Id:
rs772957495
ExAC:
2:179393373 G / A
gnomAD v2:
2-179393373-G-A
gnomAD v3:
2-178528646-G-A
gnomAD v4:
2-178528646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528646G>A , CM000664.2:g.178528646G>A | GRCh38 |
| NC_000002.11:g.179393373G>A , CM000664.1:g.179393373G>A | GRCh37 |
| NC_000002.10:g.179101619G>A | NCBI36 |
| NG_011618.3:g.307157C>T , LRG_391:g.307157C>T | |
| NG_051363.1:g.10820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99401C>T (TTN) | ENSP00000343764.6:p.Pro33134Leu | |
| ENST00000342175.11:c.80486C>T (TTN) | ENSP00000340554.6:p.Pro26829Leu | |
| ENST00000359218.10:c.80285C>T (TTN) | ENSP00000352154.5:p.Pro26762Leu | |
| ENST00000342175.10:c.80486C>T (TTN) | ENSP00000340554.6:p.Pro26829Leu | |
| ENST00000342992.10:c.99401C>T (TTN) | ENSP00000343764.6:p.Pro33134Leu | |
| ENST00000359218.9:c.80285C>T (TTN) | ENSP00000352154.5:p.Pro26762Leu | |
| ENST00000460472.6:c.79910C>T (TTN) | ENSP00000434586.1:p.Pro26637Leu | |
| ENST00000589042.5:c.107105C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro35702Leu | |
| ENST00000591111.5:c.102182C>T (TTN) | ENSP00000465570.1:p.Pro34061Leu | |
| ENST00000615779.4:c.102182C>T (TTN) | ENSP00000483597.1:p.Pro34061Leu | |
| NM_001256850.1:c.102182C>T (TTN) | NP_001243779.1:p.Pro34061Leu | |
| NM_001267550.2:c.107105C>T (TTN) MANE Select | NP_001254479.2:p.Pro35702Leu | |
| NM_003319.4:c.79910C>T (TTN) | NP_003310.4:p.Pro26637Leu | |
| NM_133378.4:c.99401C>T (TTN) | NP_596869.4:p.Pro33134Leu | |
| NM_133432.3:c.80285C>T (TTN) | NP_597676.3:p.Pro26762Leu | |
| NM_133437.4:c.80486C>T (TTN) | NP_597681.4:p.Pro26829Leu | |
| NR_038271.1:n.446+5010G>A (TTN-AS1) | ||
| NR_038272.1:n.219+5010G>A (TTN-AS1) | ||
| XM_011511729.1:c.106202C>T (TTN) | XP_011510031.1:p.Pro35401Leu | |
| XM_011511730.1:c.80096C>T (TTN) | XP_011510032.1:p.Pro26699Leu | |
| XM_011511731.1:c.79955C>T (TTN) | XP_011510033.1:p.Pro26652Leu | |
| XM_017004819.1:c.105998C>T (TTN) | XP_016860308.1:p.Pro35333Leu | |
| XM_017004820.1:c.101396C>T (TTN) | XP_016860309.1:p.Pro33799Leu | |
| XM_017004821.1:c.101393C>T (TTN) | XP_016860310.1:p.Pro33798Leu | |
| XM_017004822.1:c.98435C>T (TTN) | XP_016860311.1:p.Pro32812Leu | |
| XM_017004823.1:c.80051C>T (TTN) | XP_016860312.1:p.Pro26684Leu | |
| XM_024453094.1:c.101546C>T (TTN) | XP_024308862.1:p.Pro33849Leu | |
| XM_024453095.1:c.101543C>T (TTN) | XP_024308863.1:p.Pro33848Leu | |
| XM_024453096.1:c.100976C>T (TTN) | XP_024308864.1:p.Pro33659Leu | |
| XM_024453097.1:c.98318C>T (TTN) | XP_024308865.1:p.Pro32773Leu | |
| XM_024453098.1:c.98237C>T (TTN) | XP_024308866.1:p.Pro32746Leu | |
| XM_024453099.1:c.80000C>T (TTN) | XP_024308867.1:p.Pro26667Leu | |
| XM_024453100.1:c.69854C>T (TTN) | XP_024308868.1:p.Pro23285Leu |