Linked Data
ClinVar Variation Id:
286918
dbSNP Id:
rs72629789
ExAC:
2:179396252 G / A
gnomAD v2:
2-179396252-G-A
gnomAD v3:
2-178531525-G-A
gnomAD v4:
2-178531525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531525G>A , CM000664.2:g.178531525G>A | GRCh38 |
| NC_000002.11:g.179396252G>A , CM000664.1:g.179396252G>A | GRCh37 |
| NC_000002.10:g.179104498G>A | NCBI36 |
| NG_011618.3:g.304278C>T , LRG_391:g.304278C>T | |
| NG_051363.1:g.13699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97386C>T (TTN) | ENSP00000343764.6:p.Asp32462= | |
| ENST00000342175.11:c.78471C>T (TTN) | ENSP00000340554.6:p.Asp26157= | |
| ENST00000359218.10:c.78270C>T (TTN) | ENSP00000352154.5:p.Asp26090= | |
| ENST00000342175.10:c.78471C>T (TTN) | ENSP00000340554.6:p.Asp26157= | |
| ENST00000342992.10:c.97386C>T (TTN) | ENSP00000343764.6:p.Asp32462= | |
| ENST00000359218.9:c.78270C>T (TTN) | ENSP00000352154.5:p.Asp26090= | |
| ENST00000460472.6:c.77895C>T (TTN) | ENSP00000434586.1:p.Asp25965= | |
| ENST00000589042.5:c.105090C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp35030= | |
| ENST00000591111.5:c.100167C>T (TTN) | ENSP00000465570.1:p.Asp33389= | |
| ENST00000615779.4:c.100167C>T (TTN) | ENSP00000483597.1:p.Asp33389= | |
| NM_001256850.1:c.100167C>T (TTN) | NP_001243779.1:p.Asp33389= | |
| NM_001267550.2:c.105090C>T (TTN) MANE Select | NP_001254479.2:p.Asp35030= | |
| NM_003319.4:c.77895C>T (TTN) | NP_003310.4:p.Asp25965= | |
| NM_133378.4:c.97386C>T (TTN) | NP_596869.4:p.Asp32462= | |
| NM_133432.3:c.78270C>T (TTN) | NP_597676.3:p.Asp26090= | |
| NM_133437.4:c.78471C>T (TTN) | NP_597681.4:p.Asp26157= | |
| NR_038271.1:n.446+7889G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4207G>A (TTN-AS1) | ||
| XM_011511729.1:c.104187C>T (TTN) | XP_011510031.1:p.Asp34729= | |
| XM_011511730.1:c.78081C>T (TTN) | XP_011510032.1:p.Asp26027= | |
| XM_011511731.1:c.77940C>T (TTN) | XP_011510033.1:p.Asp25980= | |
| XM_017004819.1:c.103983C>T (TTN) | XP_016860308.1:p.Asp34661= | |
| XM_017004820.1:c.99381C>T (TTN) | XP_016860309.1:p.Asp33127= | |
| XM_017004821.1:c.99378C>T (TTN) | XP_016860310.1:p.Asp33126= | |
| XM_017004822.1:c.96420C>T (TTN) | XP_016860311.1:p.Asp32140= | |
| XM_017004823.1:c.78036C>T (TTN) | XP_016860312.1:p.Asp26012= | |
| XM_024453094.1:c.99531C>T (TTN) | XP_024308862.1:p.Asp33177= | |
| XM_024453095.1:c.99528C>T (TTN) | XP_024308863.1:p.Asp33176= | |
| XM_024453096.1:c.98961C>T (TTN) | XP_024308864.1:p.Asp32987= | |
| XM_024453097.1:c.96303C>T (TTN) | XP_024308865.1:p.Asp32101= | |
| XM_024453098.1:c.96222C>T (TTN) | XP_024308866.1:p.Asp32074= | |
| XM_024453099.1:c.77985C>T (TTN) | XP_024308867.1:p.Asp25995= | |
| XM_024453100.1:c.67839C>T (TTN) | XP_024308868.1:p.Asp22613= |