Linked Data
ClinVar Variation Id:
191911
ClinVar RCV Id:
RCV000172273
RCV000252894
RCV000412699
RCV000460832
RCV001131373
RCV001131374
RCV001131375
RCV001131376
RCV001131377
dbSNP Id:
rs374492812
ExAC:
2:179443596 C / T
gnomAD v2:
2-179443596-C-T
gnomAD v3:
2-178578869-C-T
gnomAD v4:
2-178578869-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578869C>T , CM000664.2:g.178578869C>T | GRCh38 |
| NC_000002.11:g.179443596C>T , CM000664.1:g.179443596C>T | GRCh37 |
| NC_000002.10:g.179151842C>T | NCBI36 |
| NG_011618.3:g.256934G>A , LRG_391:g.256934G>A | |
| NG_051363.1:g.61043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60457G>A (TTN) | ENSP00000343764.6:p.Glu20153Lys | |
| ENST00000342175.11:c.41542G>A (TTN) | ENSP00000340554.6:p.Glu13848Lys | |
| ENST00000359218.10:c.41341G>A (TTN) | ENSP00000352154.5:p.Glu13781Lys | |
| ENST00000342175.10:c.41542G>A (TTN) | ENSP00000340554.6:p.Glu13848Lys | |
| ENST00000342992.10:c.60457G>A (TTN) | ENSP00000343764.6:p.Glu20153Lys | |
| ENST00000359218.9:c.41341G>A (TTN) | ENSP00000352154.5:p.Glu13781Lys | |
| ENST00000460472.6:c.40966G>A (TTN) | ENSP00000434586.1:p.Glu13656Lys | |
| ENST00000589042.5:c.68161G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu22721Lys | |
| ENST00000591111.5:c.63238G>A (TTN) | ENSP00000465570.1:p.Glu21080Lys | |
| ENST00000615779.4:c.63238G>A (TTN) | ENSP00000483597.1:p.Glu21080Lys | |
| NM_001256850.1:c.63238G>A (TTN) | NP_001243779.1:p.Glu21080Lys | |
| NM_001267550.2:c.68161G>A (TTN) MANE Select | NP_001254479.2:p.Glu22721Lys | |
| NM_003319.4:c.40966G>A (TTN) | NP_003310.4:p.Glu13656Lys | |
| NM_133378.4:c.60457G>A (TTN) | NP_596869.4:p.Glu20153Lys | |
| NM_133432.3:c.41341G>A (TTN) | NP_597676.3:p.Glu13781Lys | |
| NM_133437.4:c.41542G>A (TTN) | NP_597681.4:p.Glu13848Lys | |
| NR_038271.1:n.596+7420C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3703C>T (TTN-AS1) | ||
| XM_011511729.1:c.67258G>A (TTN) | XP_011510031.1:p.Glu22420Lys | |
| XM_011511730.1:c.41152G>A (TTN) | XP_011510032.1:p.Glu13718Lys | |
| XM_011511731.1:c.41011G>A (TTN) | XP_011510033.1:p.Glu13671Lys | |
| XM_017004819.1:c.67054G>A (TTN) | XP_016860308.1:p.Glu22352Lys | |
| XM_017004820.1:c.62452G>A (TTN) | XP_016860309.1:p.Glu20818Lys | |
| XM_017004821.1:c.62449G>A (TTN) | XP_016860310.1:p.Glu20817Lys | |
| XM_017004822.1:c.59491G>A (TTN) | XP_016860311.1:p.Glu19831Lys | |
| XM_017004823.1:c.41107G>A (TTN) | XP_016860312.1:p.Glu13703Lys | |
| XM_024453094.1:c.62602G>A (TTN) | XP_024308862.1:p.Glu20868Lys | |
| XM_024453095.1:c.62599G>A (TTN) | XP_024308863.1:p.Glu20867Lys | |
| XM_024453096.1:c.62032G>A (TTN) | XP_024308864.1:p.Glu20678Lys | |
| XM_024453097.1:c.59374G>A (TTN) | XP_024308865.1:p.Glu19792Lys | |
| XM_024453098.1:c.59293G>A (TTN) | XP_024308866.1:p.Glu19765Lys | |
| XM_024453099.1:c.41056G>A (TTN) | XP_024308867.1:p.Glu13686Lys | |
| XM_024453100.1:c.30910G>A (TTN) | XP_024308868.1:p.Glu10304Lys |