Linked Data
ClinVar Variation Id:
47024
ClinVar RCV Id:
RCV000040294
RCV000172666
RCV000244085
RCV000278356
RCV000335718
RCV000284453
RCV000337051
RCV000406708
RCV000768998
RCV001081356
RCV000852850
RCV001358658
RCV004528209
dbSNP Id:
rs72677242
ExAC:
2:179479607 G / A
gnomAD v2:
2-179479607-G-A
gnomAD v3:
2-178614880-G-A
gnomAD v4:
2-178614880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614880G>A , CM000664.2:g.178614880G>A | GRCh38 |
| NC_000002.11:g.179479607G>A , CM000664.1:g.179479607G>A | GRCh37 |
| NC_000002.10:g.179187852G>A | NCBI36 |
| NG_011618.3:g.220923C>T , LRG_391:g.220923C>T | |
| NG_051363.1:g.97054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41023C>T (TTN) | ENSP00000343764.6:p.Pro13675Ser | |
| ENST00000342175.11:c.22108C>T (TTN) | ENSP00000340554.6:p.Pro7370Ser | |
| ENST00000359218.10:c.21907C>T (TTN) | ENSP00000352154.5:p.Pro7303Ser | |
| ENST00000342175.10:c.22108C>T (TTN) | ENSP00000340554.6:p.Pro7370Ser | |
| ENST00000342992.10:c.41023C>T (TTN) | ENSP00000343764.6:p.Pro13675Ser | |
| ENST00000359218.9:c.21907C>T (TTN) | ENSP00000352154.5:p.Pro7303Ser | |
| ENST00000460472.6:c.21532C>T (TTN) | ENSP00000434586.1:p.Pro7178Ser | |
| ENST00000589042.5:c.48727C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro16243Ser | |
| ENST00000591111.5:c.43804C>T (TTN) | ENSP00000465570.1:p.Pro14602Ser | |
| ENST00000615779.4:c.43804C>T (TTN) | ENSP00000483597.1:p.Pro14602Ser | |
| NM_001256850.1:c.43804C>T (TTN) | NP_001243779.1:p.Pro14602Ser | |
| NM_001267550.2:c.48727C>T (TTN) MANE Select | NP_001254479.2:p.Pro16243Ser | |
| NM_003319.4:c.21532C>T (TTN) | NP_003310.4:p.Pro7178Ser | |
| NM_133378.4:c.41023C>T (TTN) | NP_596869.4:p.Pro13675Ser | |
| NM_133432.3:c.21907C>T (TTN) | NP_597676.3:p.Pro7303Ser | |
| NM_133437.4:c.22108C>T (TTN) | NP_597681.4:p.Pro7370Ser | |
| NR_038271.1:n.1552+76G>A (TTN-AS1) | ||
| XM_011511729.1:c.47824C>T (TTN) | XP_011510031.1:p.Pro15942Ser | |
| XM_011511730.1:c.21718C>T (TTN) | XP_011510032.1:p.Pro7240Ser | |
| XM_011511731.1:c.21577C>T (TTN) | XP_011510033.1:p.Pro7193Ser | |
| XM_017004819.1:c.47620C>T (TTN) | XP_016860308.1:p.Pro15874Ser | |
| XM_017004820.1:c.43018C>T (TTN) | XP_016860309.1:p.Pro14340Ser | |
| XM_017004821.1:c.43015C>T (TTN) | XP_016860310.1:p.Pro14339Ser | |
| XM_017004822.1:c.40057C>T (TTN) | XP_016860311.1:p.Pro13353Ser | |
| XM_017004823.1:c.21673C>T (TTN) | XP_016860312.1:p.Pro7225Ser | |
| XM_024453094.1:c.43168C>T (TTN) | XP_024308862.1:p.Pro14390Ser | |
| XM_024453095.1:c.43165C>T (TTN) | XP_024308863.1:p.Pro14389Ser | |
| XM_024453096.1:c.42598C>T (TTN) | XP_024308864.1:p.Pro14200Ser | |
| XM_024453097.1:c.39940C>T (TTN) | XP_024308865.1:p.Pro13314Ser | |
| XM_024453098.1:c.39859C>T (TTN) | XP_024308866.1:p.Pro13287Ser | |
| XM_024453099.1:c.21622C>T (TTN) | XP_024308867.1:p.Pro7208Ser | |
| XM_024453100.1:c.11476C>T (TTN) | XP_024308868.1:p.Pro3826Ser |