Linked Data
ClinVar Variation Id:
179609
dbSNP Id:
rs727504987
ExAC:
2:179402650 C / A
gnomAD v2:
2-179402650-C-A
gnomAD v3:
2-178537923-C-A
gnomAD v4:
2-178537923-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537923C>A , CM000664.2:g.178537923C>A | GRCh38 |
| NC_000002.11:g.179402650C>A , CM000664.1:g.179402650C>A | GRCh37 |
| NC_000002.10:g.179110896C>A | NCBI36 |
| NG_011618.3:g.297880G>T , LRG_391:g.297880G>T | |
| NG_051363.1:g.20097C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91586-6G>T (TTN) | ENSP00000343764.6:n.91586-6G>T | |
| ENST00000342175.11:c.72671-6G>T (TTN) | ENSP00000340554.6:n.72671-6G>T | |
| ENST00000359218.10:c.72470-6G>T (TTN) | ENSP00000352154.5:n.72470-6G>T | |
| ENST00000342175.10:c.72671-6G>T (TTN) | ENSP00000340554.6:n.72671-6G>T | |
| ENST00000342992.10:c.91586-6G>T (TTN) | ENSP00000343764.6:n.91586-6G>T | |
| ENST00000359218.9:c.72470-6G>T (TTN) | ENSP00000352154.5:n.72470-6G>T | |
| ENST00000460472.6:c.72095-6G>T (TTN) | ENSP00000434586.1:n.72095-6G>T | |
| ENST00000589042.5:c.99290-6G>T (TTN) MANE Select | ENSP00000467141.1:n.99290-6G>T | |
| ENST00000591111.5:c.94367-6G>T (TTN) | ENSP00000465570.1:n.94367-6G>T | |
| ENST00000615779.4:c.94367-6G>T (TTN) | ENSP00000483597.1:n.94367-6G>T | |
| NM_001256850.1:c.94367-6G>T (TTN) | NP_001243779.1:n.94367-6G>T | |
| NM_001267550.2:c.99290-6G>T (TTN) MANE Select | NP_001254479.2:n.99290-6G>T | |
| NM_003319.4:c.72095-6G>T (TTN) | NP_003310.4:n.72095-6G>T | |
| NM_133378.4:c.91586-6G>T (TTN) | NP_596869.4:n.91586-6G>T | |
| NM_133432.3:c.72470-6G>T (TTN) | NP_597676.3:n.72470-6G>T | |
| NM_133437.4:c.72671-6G>T (TTN) | NP_597681.4:n.72671-6G>T | |
| NR_038271.1:n.446+14287C>A (TTN-AS1) | ||
| NR_038272.1:n.647+232C>A (TTN-AS1) | ||
| XM_011511729.1:c.98387-6G>T (TTN) | XP_011510031.1:n.98387-6G>T | |
| XM_011511730.1:c.72281-6G>T (TTN) | XP_011510032.1:n.72281-6G>T | |
| XM_011511731.1:c.72140-6G>T (TTN) | XP_011510033.1:n.72140-6G>T | |
| XM_017004819.1:c.98183-6G>T (TTN) | XP_016860308.1:n.98183-6G>T | |
| XM_017004820.1:c.93581-6G>T (TTN) | XP_016860309.1:n.93581-6G>T | |
| XM_017004821.1:c.93578-6G>T (TTN) | XP_016860310.1:n.93578-6G>T | |
| XM_017004822.1:c.90620-6G>T (TTN) | XP_016860311.1:n.90620-6G>T | |
| XM_017004823.1:c.72236-6G>T (TTN) | XP_016860312.1:n.72236-6G>T | |
| XM_024453094.1:c.93731-6G>T (TTN) | XP_024308862.1:n.93731-6G>T | |
| XM_024453095.1:c.93728-6G>T (TTN) | XP_024308863.1:n.93728-6G>T | |
| XM_024453096.1:c.93161-6G>T (TTN) | XP_024308864.1:n.93161-6G>T | |
| XM_024453097.1:c.90503-6G>T (TTN) | XP_024308865.1:n.90503-6G>T | |
| XM_024453098.1:c.90422-6G>T (TTN) | XP_024308866.1:n.90422-6G>T | |
| XM_024453099.1:c.72185-6G>T (TTN) | XP_024308867.1:n.72185-6G>T | |
| XM_024453100.1:c.62039-6G>T (TTN) | XP_024308868.1:n.62039-6G>T |