Linked Data
ClinVar Variation Id:
202282
ClinVar RCV Id:
RCV000184115
RCV000472360
RCV001840281
RCV001840278
RCV001840279
RCV001840280
RCV004537538
dbSNP Id:
rs773128928
ExAC:
2:179401980 G / A
gnomAD v2:
2-179401980-G-A
gnomAD v3:
2-178537253-G-A
gnomAD v4:
2-178537253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537253G>A , CM000664.2:g.178537253G>A | GRCh38 |
| NC_000002.11:g.179401980G>A , CM000664.1:g.179401980G>A | GRCh37 |
| NC_000002.10:g.179110226G>A | NCBI36 |
| NG_011618.3:g.298550C>T , LRG_391:g.298550C>T | |
| NG_051363.1:g.19427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92162-10C>T (TTN) | ENSP00000343764.6:n.92162-10C>T | |
| ENST00000342175.11:c.73247-10C>T (TTN) | ENSP00000340554.6:n.73247-10C>T | |
| ENST00000359218.10:c.73046-10C>T (TTN) | ENSP00000352154.5:n.73046-10C>T | |
| ENST00000342175.10:c.73247-10C>T (TTN) | ENSP00000340554.6:n.73247-10C>T | |
| ENST00000342992.10:c.92162-10C>T (TTN) | ENSP00000343764.6:n.92162-10C>T | |
| ENST00000359218.9:c.73046-10C>T (TTN) | ENSP00000352154.5:n.73046-10C>T | |
| ENST00000460472.6:c.72671-10C>T (TTN) | ENSP00000434586.1:n.72671-10C>T | |
| ENST00000589042.5:c.99866-10C>T (TTN) MANE Select | ENSP00000467141.1:n.99866-10C>T | |
| ENST00000591111.5:c.94943-10C>T (TTN) | ENSP00000465570.1:n.94943-10C>T | |
| ENST00000615779.4:c.94943-10C>T (TTN) | ENSP00000483597.1:n.94943-10C>T | |
| NM_001256850.1:c.94943-10C>T (TTN) | NP_001243779.1:n.94943-10C>T | |
| NM_001267550.2:c.99866-10C>T (TTN) MANE Select | NP_001254479.2:n.99866-10C>T | |
| NM_003319.4:c.72671-10C>T (TTN) | NP_003310.4:n.72671-10C>T | |
| NM_133378.4:c.92162-10C>T (TTN) | NP_596869.4:n.92162-10C>T | |
| NM_133432.3:c.73046-10C>T (TTN) | NP_597676.3:n.73046-10C>T | |
| NM_133437.4:c.73247-10C>T (TTN) | NP_597681.4:n.73247-10C>T | |
| NR_038271.1:n.446+13617G>A (TTN-AS1) | ||
| NR_038272.1:n.317-108G>A (TTN-AS1) | ||
| XM_011511729.1:c.98963-10C>T (TTN) | XP_011510031.1:n.98963-10C>T | |
| XM_011511730.1:c.72857-10C>T (TTN) | XP_011510032.1:n.72857-10C>T | |
| XM_011511731.1:c.72716-10C>T (TTN) | XP_011510033.1:n.72716-10C>T | |
| XM_017004819.1:c.98759-10C>T (TTN) | XP_016860308.1:n.98759-10C>T | |
| XM_017004820.1:c.94157-10C>T (TTN) | XP_016860309.1:n.94157-10C>T | |
| XM_017004821.1:c.94154-10C>T (TTN) | XP_016860310.1:n.94154-10C>T | |
| XM_017004822.1:c.91196-10C>T (TTN) | XP_016860311.1:n.91196-10C>T | |
| XM_017004823.1:c.72812-10C>T (TTN) | XP_016860312.1:n.72812-10C>T | |
| XM_024453094.1:c.94307-10C>T (TTN) | XP_024308862.1:n.94307-10C>T | |
| XM_024453095.1:c.94304-10C>T (TTN) | XP_024308863.1:n.94304-10C>T | |
| XM_024453096.1:c.93737-10C>T (TTN) | XP_024308864.1:n.93737-10C>T | |
| XM_024453097.1:c.91079-10C>T (TTN) | XP_024308865.1:n.91079-10C>T | |
| XM_024453098.1:c.90998-10C>T (TTN) | XP_024308866.1:n.90998-10C>T | |
| XM_024453099.1:c.72761-10C>T (TTN) | XP_024308867.1:n.72761-10C>T | |
| XM_024453100.1:c.62615-10C>T (TTN) | XP_024308868.1:n.62615-10C>T |