Linked Data
ClinVar Variation Id:
332690
ClinVar RCV Id:
RCV000281470
RCV000284557
RCV000324787
RCV000375453
RCV000379364
RCV002402053
RCV003137938
dbSNP Id:
rs72629788
ExAC:
2:179396751 G / A
gnomAD v2:
2-179396751-G-A
gnomAD v3:
2-178532024-G-A
gnomAD v4:
2-178532024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532024G>A , CM000664.2:g.178532024G>A | GRCh38 |
| NC_000002.11:g.179396751G>A , CM000664.1:g.179396751G>A | GRCh37 |
| NC_000002.10:g.179104997G>A | NCBI36 |
| NG_011618.3:g.303779C>T , LRG_391:g.303779C>T | |
| NG_051363.1:g.14198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96887C>T (TTN) | ENSP00000343764.6:p.Pro32296Leu | |
| ENST00000342175.11:c.77972C>T (TTN) | ENSP00000340554.6:p.Pro25991Leu | |
| ENST00000359218.10:c.77771C>T (TTN) | ENSP00000352154.5:p.Pro25924Leu | |
| ENST00000342175.10:c.77972C>T (TTN) | ENSP00000340554.6:p.Pro25991Leu | |
| ENST00000342992.10:c.96887C>T (TTN) | ENSP00000343764.6:p.Pro32296Leu | |
| ENST00000359218.9:c.77771C>T (TTN) | ENSP00000352154.5:p.Pro25924Leu | |
| ENST00000460472.6:c.77396C>T (TTN) | ENSP00000434586.1:p.Pro25799Leu | |
| ENST00000589042.5:c.104591C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro34864Leu | |
| ENST00000591111.5:c.99668C>T (TTN) | ENSP00000465570.1:p.Pro33223Leu | |
| ENST00000615779.4:c.99668C>T (TTN) | ENSP00000483597.1:p.Pro33223Leu | |
| NM_001256850.1:c.99668C>T (TTN) | NP_001243779.1:p.Pro33223Leu | |
| NM_001267550.2:c.104591C>T (TTN) MANE Select | NP_001254479.2:p.Pro34864Leu | |
| NM_003319.4:c.77396C>T (TTN) | NP_003310.4:p.Pro25799Leu | |
| NM_133378.4:c.96887C>T (TTN) | NP_596869.4:p.Pro32296Leu | |
| NM_133432.3:c.77771C>T (TTN) | NP_597676.3:p.Pro25924Leu | |
| NM_133437.4:c.77972C>T (TTN) | NP_597681.4:p.Pro25991Leu | |
| NR_038271.1:n.446+8388G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3708G>A (TTN-AS1) | ||
| XM_011511729.1:c.103688C>T (TTN) | XP_011510031.1:p.Pro34563Leu | |
| XM_011511730.1:c.77582C>T (TTN) | XP_011510032.1:p.Pro25861Leu | |
| XM_011511731.1:c.77441C>T (TTN) | XP_011510033.1:p.Pro25814Leu | |
| XM_017004819.1:c.103484C>T (TTN) | XP_016860308.1:p.Pro34495Leu | |
| XM_017004820.1:c.98882C>T (TTN) | XP_016860309.1:p.Pro32961Leu | |
| XM_017004821.1:c.98879C>T (TTN) | XP_016860310.1:p.Pro32960Leu | |
| XM_017004822.1:c.95921C>T (TTN) | XP_016860311.1:p.Pro31974Leu | |
| XM_017004823.1:c.77537C>T (TTN) | XP_016860312.1:p.Pro25846Leu | |
| XM_024453094.1:c.99032C>T (TTN) | XP_024308862.1:p.Pro33011Leu | |
| XM_024453095.1:c.99029C>T (TTN) | XP_024308863.1:p.Pro33010Leu | |
| XM_024453096.1:c.98462C>T (TTN) | XP_024308864.1:p.Pro32821Leu | |
| XM_024453097.1:c.95804C>T (TTN) | XP_024308865.1:p.Pro31935Leu | |
| XM_024453098.1:c.95723C>T (TTN) | XP_024308866.1:p.Pro31908Leu | |
| XM_024453099.1:c.77486C>T (TTN) | XP_024308867.1:p.Pro25829Leu | |
| XM_024453100.1:c.67340C>T (TTN) | XP_024308868.1:p.Pro22447Leu |