Linked Data
ClinVar Variation Id:
202780
ClinVar RCV Id:
RCV000320752
RCV000267919
RCV000326464
RCV000360194
RCV000377730
RCV001711472
RCV003150070
dbSNP Id:
rs749018114
ExAC:
2:179451433 C / T
gnomAD v2:
2-179451433-C-T
gnomAD v3:
2-178586706-C-T
gnomAD v4:
2-178586706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586706C>T , CM000664.2:g.178586706C>T | GRCh38 |
| NC_000002.11:g.179451433C>T , CM000664.1:g.179451433C>T | GRCh37 |
| NC_000002.10:g.179159679C>T | NCBI36 |
| NG_011618.3:g.249097G>A , LRG_391:g.249097G>A | |
| NG_051363.1:g.68880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56491G>A (TTN) | ENSP00000343764.6:p.Asp18831Asn | |
| ENST00000342175.11:c.37576G>A (TTN) | ENSP00000340554.6:p.Asp12526Asn | |
| ENST00000359218.10:c.37375G>A (TTN) | ENSP00000352154.5:p.Asp12459Asn | |
| ENST00000342175.10:c.37576G>A (TTN) | ENSP00000340554.6:p.Asp12526Asn | |
| ENST00000342992.10:c.56491G>A (TTN) | ENSP00000343764.6:p.Asp18831Asn | |
| ENST00000359218.9:c.37375G>A (TTN) | ENSP00000352154.5:p.Asp12459Asn | |
| ENST00000460472.6:c.37000G>A (TTN) | ENSP00000434586.1:p.Asp12334Asn | |
| ENST00000589042.5:c.64195G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp21399Asn | |
| ENST00000591111.5:c.59272G>A (TTN) | ENSP00000465570.1:p.Asp19758Asn | |
| ENST00000615779.4:c.59272G>A (TTN) | ENSP00000483597.1:p.Asp19758Asn | |
| NM_001256850.1:c.59272G>A (TTN) | NP_001243779.1:p.Asp19758Asn | |
| NM_001267550.2:c.64195G>A (TTN) MANE Select | NP_001254479.2:p.Asp21399Asn | |
| NM_003319.4:c.37000G>A (TTN) | NP_003310.4:p.Asp12334Asn | |
| NM_133378.4:c.56491G>A (TTN) | NP_596869.4:p.Asp18831Asn | |
| NM_133432.3:c.37375G>A (TTN) | NP_597676.3:p.Asp12459Asn | |
| NM_133437.4:c.37576G>A (TTN) | NP_597681.4:p.Asp12526Asn | |
| NR_038271.1:n.597-10890C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+1713C>T (TTN-AS1) | ||
| XM_011511729.1:c.63292G>A (TTN) | XP_011510031.1:p.Asp21098Asn | |
| XM_011511730.1:c.37186G>A (TTN) | XP_011510032.1:p.Asp12396Asn | |
| XM_011511731.1:c.37045G>A (TTN) | XP_011510033.1:p.Asp12349Asn | |
| XM_017004819.1:c.63088G>A (TTN) | XP_016860308.1:p.Asp21030Asn | |
| XM_017004820.1:c.58486G>A (TTN) | XP_016860309.1:p.Asp19496Asn | |
| XM_017004821.1:c.58483G>A (TTN) | XP_016860310.1:p.Asp19495Asn | |
| XM_017004822.1:c.55525G>A (TTN) | XP_016860311.1:p.Asp18509Asn | |
| XM_017004823.1:c.37141G>A (TTN) | XP_016860312.1:p.Asp12381Asn | |
| XM_024453094.1:c.58636G>A (TTN) | XP_024308862.1:p.Asp19546Asn | |
| XM_024453095.1:c.58633G>A (TTN) | XP_024308863.1:p.Asp19545Asn | |
| XM_024453096.1:c.58066G>A (TTN) | XP_024308864.1:p.Asp19356Asn | |
| XM_024453097.1:c.55408G>A (TTN) | XP_024308865.1:p.Asp18470Asn | |
| XM_024453098.1:c.55327G>A (TTN) | XP_024308866.1:p.Asp18443Asn | |
| XM_024453099.1:c.37090G>A (TTN) | XP_024308867.1:p.Asp12364Asn | |
| XM_024453100.1:c.26944G>A (TTN) | XP_024308868.1:p.Asp8982Asn |