Linked Data
ClinVar Variation Id:
47157
ClinVar RCV Id:
RCV000040427
RCV000172654
RCV000472663
RCV000768977
RCV001132010
RCV001132952
RCV002321528
dbSNP Id:
rs199512049
ExAC:
2:179456541 T / C
gnomAD v2:
2-179456541-T-C
gnomAD v3:
2-178591814-T-C
gnomAD v4:
2-178591814-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591814T>C , CM000664.2:g.178591814T>C | GRCh38 |
| NC_000002.11:g.179456541T>C , CM000664.1:g.179456541T>C | GRCh37 |
| NC_000002.10:g.179164787T>C | NCBI36 |
| NG_011618.3:g.243989A>G , LRG_391:g.243989A>G | |
| NG_051363.1:g.73988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52301A>G (TTN) | ENSP00000343764.6:p.Asp17434Gly | |
| ENST00000342175.11:c.33386A>G (TTN) | ENSP00000340554.6:p.Asp11129Gly | |
| ENST00000359218.10:c.33185A>G (TTN) | ENSP00000352154.5:p.Asp11062Gly | |
| ENST00000342175.10:c.33386A>G (TTN) | ENSP00000340554.6:p.Asp11129Gly | |
| ENST00000342992.10:c.52301A>G (TTN) | ENSP00000343764.6:p.Asp17434Gly | |
| ENST00000359218.9:c.33185A>G (TTN) | ENSP00000352154.5:p.Asp11062Gly | |
| ENST00000460472.6:c.32810A>G (TTN) | ENSP00000434586.1:p.Asp10937Gly | |
| ENST00000589042.5:c.60005A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp20002Gly | |
| ENST00000591111.5:c.55082A>G (TTN) | ENSP00000465570.1:p.Asp18361Gly | |
| ENST00000615779.4:c.55082A>G (TTN) | ENSP00000483597.1:p.Asp18361Gly | |
| NM_001256850.1:c.55082A>G (TTN) | NP_001243779.1:p.Asp18361Gly | |
| NM_001267550.2:c.60005A>G (TTN) MANE Select | NP_001254479.2:p.Asp20002Gly | |
| NM_003319.4:c.32810A>G (TTN) | NP_003310.4:p.Asp10937Gly | |
| NM_133378.4:c.52301A>G (TTN) | NP_596869.4:p.Asp17434Gly | |
| NM_133432.3:c.33185A>G (TTN) | NP_597676.3:p.Asp11062Gly | |
| NM_133437.4:c.33386A>G (TTN) | NP_597681.4:p.Asp11129Gly | |
| NR_038271.1:n.597-5782T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+500T>C (TTN-AS1) | ||
| XM_011511729.1:c.59102A>G (TTN) | XP_011510031.1:p.Asp19701Gly | |
| XM_011511730.1:c.32996A>G (TTN) | XP_011510032.1:p.Asp10999Gly | |
| XM_011511731.1:c.32855A>G (TTN) | XP_011510033.1:p.Asp10952Gly | |
| XM_017004819.1:c.58898A>G (TTN) | XP_016860308.1:p.Asp19633Gly | |
| XM_017004820.1:c.54296A>G (TTN) | XP_016860309.1:p.Asp18099Gly | |
| XM_017004821.1:c.54293A>G (TTN) | XP_016860310.1:p.Asp18098Gly | |
| XM_017004822.1:c.51335A>G (TTN) | XP_016860311.1:p.Asp17112Gly | |
| XM_017004823.1:c.32951A>G (TTN) | XP_016860312.1:p.Asp10984Gly | |
| XM_024453094.1:c.54446A>G (TTN) | XP_024308862.1:p.Asp18149Gly | |
| XM_024453095.1:c.54443A>G (TTN) | XP_024308863.1:p.Asp18148Gly | |
| XM_024453096.1:c.53876A>G (TTN) | XP_024308864.1:p.Asp17959Gly | |
| XM_024453097.1:c.51218A>G (TTN) | XP_024308865.1:p.Asp17073Gly | |
| XM_024453098.1:c.51137A>G (TTN) | XP_024308866.1:p.Asp17046Gly | |
| XM_024453099.1:c.32900A>G (TTN) | XP_024308867.1:p.Asp10967Gly | |
| XM_024453100.1:c.22754A>G (TTN) | XP_024308868.1:p.Asp7585Gly |