Linked Data
ClinVar Variation Id:
47062
dbSNP Id:
rs397517609
ExAC:
2:179473495 C / T
gnomAD v2:
2-179473495-C-T
gnomAD v3:
2-178608768-C-T
gnomAD v4:
2-178608768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608768C>T , CM000664.2:g.178608768C>T | GRCh38 |
| NC_000002.11:g.179473495C>T , CM000664.1:g.179473495C>T | GRCh37 |
| NC_000002.10:g.179181740C>T | NCBI36 |
| NG_011618.3:g.227035G>A , LRG_391:g.227035G>A | |
| NG_051363.1:g.90942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44539G>A (TTN) | ENSP00000343764.6:p.Asp14847Asn | |
| ENST00000342175.11:c.25624G>A (TTN) | ENSP00000340554.6:p.Asp8542Asn | |
| ENST00000359218.10:c.25423G>A (TTN) | ENSP00000352154.5:p.Asp8475Asn | |
| ENST00000342175.10:c.25624G>A (TTN) | ENSP00000340554.6:p.Asp8542Asn | |
| ENST00000342992.10:c.44539G>A (TTN) | ENSP00000343764.6:p.Asp14847Asn | |
| ENST00000359218.9:c.25423G>A (TTN) | ENSP00000352154.5:p.Asp8475Asn | |
| ENST00000460472.6:c.25048G>A (TTN) | ENSP00000434586.1:p.Asp8350Asn | |
| ENST00000589042.5:c.52243G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp17415Asn | |
| ENST00000591111.5:c.47320G>A (TTN) | ENSP00000465570.1:p.Asp15774Asn | |
| ENST00000615779.4:c.47320G>A (TTN) | ENSP00000483597.1:p.Asp15774Asn | |
| NM_001256850.1:c.47320G>A (TTN) | NP_001243779.1:p.Asp15774Asn | |
| NM_001267550.2:c.52243G>A (TTN) MANE Select | NP_001254479.2:p.Asp17415Asn | |
| NM_003319.4:c.25048G>A (TTN) | NP_003310.4:p.Asp8350Asn | |
| NM_133378.4:c.44539G>A (TTN) | NP_596869.4:p.Asp14847Asn | |
| NM_133432.3:c.25423G>A (TTN) | NP_597676.3:p.Asp8475Asn | |
| NM_133437.4:c.25624G>A (TTN) | NP_597681.4:p.Asp8542Asn | |
| NR_038271.1:n.782+502C>T (TTN-AS1) | ||
| XM_011511729.1:c.51340G>A (TTN) | XP_011510031.1:p.Asp17114Asn | |
| XM_011511730.1:c.25234G>A (TTN) | XP_011510032.1:p.Asp8412Asn | |
| XM_011511731.1:c.25093G>A (TTN) | XP_011510033.1:p.Asp8365Asn | |
| XM_017004819.1:c.51136G>A (TTN) | XP_016860308.1:p.Asp17046Asn | |
| XM_017004820.1:c.46534G>A (TTN) | XP_016860309.1:p.Asp15512Asn | |
| XM_017004821.1:c.46531G>A (TTN) | XP_016860310.1:p.Asp15511Asn | |
| XM_017004822.1:c.43573G>A (TTN) | XP_016860311.1:p.Asp14525Asn | |
| XM_017004823.1:c.25189G>A (TTN) | XP_016860312.1:p.Asp8397Asn | |
| XM_024453094.1:c.46684G>A (TTN) | XP_024308862.1:p.Asp15562Asn | |
| XM_024453095.1:c.46681G>A (TTN) | XP_024308863.1:p.Asp15561Asn | |
| XM_024453096.1:c.46114G>A (TTN) | XP_024308864.1:p.Asp15372Asn | |
| XM_024453097.1:c.43456G>A (TTN) | XP_024308865.1:p.Asp14486Asn | |
| XM_024453098.1:c.43375G>A (TTN) | XP_024308866.1:p.Asp14459Asn | |
| XM_024453099.1:c.25138G>A (TTN) | XP_024308867.1:p.Asp8380Asn | |
| XM_024453100.1:c.14992G>A (TTN) | XP_024308868.1:p.Asp4998Asn |