Linked Data
ClinVar Variation Id:
191923
ClinVar RCV Id:
RCV000172288
RCV000559196
RCV000769981
RCV001135230
RCV001135229
RCV001135226
RCV001135227
RCV001135228
RCV002453599
dbSNP Id:
rs199505416
ExAC:
2:179452061 C / T
gnomAD v2:
2-179452061-C-T
gnomAD v3:
2-178587334-C-T
gnomAD v4:
2-178587334-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587334C>T , CM000664.2:g.178587334C>T | GRCh38 |
| NC_000002.11:g.179452061C>T , CM000664.1:g.179452061C>T | GRCh37 |
| NC_000002.10:g.179160307C>T | NCBI36 |
| NG_011618.3:g.248469G>A , LRG_391:g.248469G>A | |
| NG_051363.1:g.69508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56173G>A (TTN) | ENSP00000343764.6:p.Asp18725Asn | |
| ENST00000342175.11:c.37258G>A (TTN) | ENSP00000340554.6:p.Asp12420Asn | |
| ENST00000359218.10:c.37057G>A (TTN) | ENSP00000352154.5:p.Asp12353Asn | |
| ENST00000342175.10:c.37258G>A (TTN) | ENSP00000340554.6:p.Asp12420Asn | |
| ENST00000342992.10:c.56173G>A (TTN) | ENSP00000343764.6:p.Asp18725Asn | |
| ENST00000359218.9:c.37057G>A (TTN) | ENSP00000352154.5:p.Asp12353Asn | |
| ENST00000460472.6:c.36682G>A (TTN) | ENSP00000434586.1:p.Asp12228Asn | |
| ENST00000589042.5:c.63877G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp21293Asn | |
| ENST00000591111.5:c.58954G>A (TTN) | ENSP00000465570.1:p.Asp19652Asn | |
| ENST00000615779.4:c.58954G>A (TTN) | ENSP00000483597.1:p.Asp19652Asn | |
| NM_001256850.1:c.58954G>A (TTN) | NP_001243779.1:p.Asp19652Asn | |
| NM_001267550.2:c.63877G>A (TTN) MANE Select | NP_001254479.2:p.Asp21293Asn | |
| NM_003319.4:c.36682G>A (TTN) | NP_003310.4:p.Asp12228Asn | |
| NM_133378.4:c.56173G>A (TTN) | NP_596869.4:p.Asp18725Asn | |
| NM_133432.3:c.37057G>A (TTN) | NP_597676.3:p.Asp12353Asn | |
| NM_133437.4:c.37258G>A (TTN) | NP_597681.4:p.Asp12420Asn | |
| NR_038271.1:n.597-10262C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2341C>T (TTN-AS1) | ||
| XM_011511729.1:c.62974G>A (TTN) | XP_011510031.1:p.Asp20992Asn | |
| XM_011511730.1:c.36868G>A (TTN) | XP_011510032.1:p.Asp12290Asn | |
| XM_011511731.1:c.36727G>A (TTN) | XP_011510033.1:p.Asp12243Asn | |
| XM_017004819.1:c.62770G>A (TTN) | XP_016860308.1:p.Asp20924Asn | |
| XM_017004820.1:c.58168G>A (TTN) | XP_016860309.1:p.Asp19390Asn | |
| XM_017004821.1:c.58165G>A (TTN) | XP_016860310.1:p.Asp19389Asn | |
| XM_017004822.1:c.55207G>A (TTN) | XP_016860311.1:p.Asp18403Asn | |
| XM_017004823.1:c.36823G>A (TTN) | XP_016860312.1:p.Asp12275Asn | |
| XM_024453094.1:c.58318G>A (TTN) | XP_024308862.1:p.Asp19440Asn | |
| XM_024453095.1:c.58315G>A (TTN) | XP_024308863.1:p.Asp19439Asn | |
| XM_024453096.1:c.57748G>A (TTN) | XP_024308864.1:p.Asp19250Asn | |
| XM_024453097.1:c.55090G>A (TTN) | XP_024308865.1:p.Asp18364Asn | |
| XM_024453098.1:c.55009G>A (TTN) | XP_024308866.1:p.Asp18337Asn | |
| XM_024453099.1:c.36772G>A (TTN) | XP_024308867.1:p.Asp12258Asn | |
| XM_024453100.1:c.26626G>A (TTN) | XP_024308868.1:p.Asp8876Asn |