Linked Data
ClinVar Variation Id:
2437980
ClinVar RCV Id:
RCV003137145
dbSNP Id:
rs746512551
ExAC:
2:179395287 G / T
gnomAD v2:
2-179395287-G-T
gnomAD v4:
2-178530560-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530560G>T , CM000664.2:g.178530560G>T | GRCh38 |
| NC_000002.11:g.179395287G>T , CM000664.1:g.179395287G>T | GRCh37 |
| NC_000002.10:g.179103533G>T | NCBI36 |
| NG_011618.3:g.305243C>A , LRG_391:g.305243C>A | |
| NG_051363.1:g.12734G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98351C>A (TTN) | ENSP00000343764.6:p.Ser32784Tyr | |
| ENST00000342175.11:c.79436C>A (TTN) | ENSP00000340554.6:p.Ser26479Tyr | |
| ENST00000359218.10:c.79235C>A (TTN) | ENSP00000352154.5:p.Ser26412Tyr | |
| ENST00000342175.10:c.79436C>A (TTN) | ENSP00000340554.6:p.Ser26479Tyr | |
| ENST00000342992.10:c.98351C>A (TTN) | ENSP00000343764.6:p.Ser32784Tyr | |
| ENST00000359218.9:c.79235C>A (TTN) | ENSP00000352154.5:p.Ser26412Tyr | |
| ENST00000460472.6:c.78860C>A (TTN) | ENSP00000434586.1:p.Ser26287Tyr | |
| ENST00000589042.5:c.106055C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser35352Tyr | |
| ENST00000591111.5:c.101132C>A (TTN) | ENSP00000465570.1:p.Ser33711Tyr | |
| ENST00000615779.4:c.101132C>A (TTN) | ENSP00000483597.1:p.Ser33711Tyr | |
| NM_001256850.1:c.101132C>A (TTN) | NP_001243779.1:p.Ser33711Tyr | |
| NM_001267550.2:c.106055C>A (TTN) MANE Select | NP_001254479.2:p.Ser35352Tyr | |
| NM_003319.4:c.78860C>A (TTN) | NP_003310.4:p.Ser26287Tyr | |
| NM_133378.4:c.98351C>A (TTN) | NP_596869.4:p.Ser32784Tyr | |
| NM_133432.3:c.79235C>A (TTN) | NP_597676.3:p.Ser26412Tyr | |
| NM_133437.4:c.79436C>A (TTN) | NP_597681.4:p.Ser26479Tyr | |
| NR_038271.1:n.446+6924G>T (TTN-AS1) | ||
| NR_038272.1:n.220-5172G>T (TTN-AS1) | ||
| XM_011511729.1:c.105152C>A (TTN) | XP_011510031.1:p.Ser35051Tyr | |
| XM_011511730.1:c.79046C>A (TTN) | XP_011510032.1:p.Ser26349Tyr | |
| XM_011511731.1:c.78905C>A (TTN) | XP_011510033.1:p.Ser26302Tyr | |
| XM_017004819.1:c.104948C>A (TTN) | XP_016860308.1:p.Ser34983Tyr | |
| XM_017004820.1:c.100346C>A (TTN) | XP_016860309.1:p.Ser33449Tyr | |
| XM_017004821.1:c.100343C>A (TTN) | XP_016860310.1:p.Ser33448Tyr | |
| XM_017004822.1:c.97385C>A (TTN) | XP_016860311.1:p.Ser32462Tyr | |
| XM_017004823.1:c.79001C>A (TTN) | XP_016860312.1:p.Ser26334Tyr | |
| XM_024453094.1:c.100496C>A (TTN) | XP_024308862.1:p.Ser33499Tyr | |
| XM_024453095.1:c.100493C>A (TTN) | XP_024308863.1:p.Ser33498Tyr | |
| XM_024453096.1:c.99926C>A (TTN) | XP_024308864.1:p.Ser33309Tyr | |
| XM_024453097.1:c.97268C>A (TTN) | XP_024308865.1:p.Ser32423Tyr | |
| XM_024453098.1:c.97187C>A (TTN) | XP_024308866.1:p.Ser32396Tyr | |
| XM_024453099.1:c.78950C>A (TTN) | XP_024308867.1:p.Ser26317Tyr | |
| XM_024453100.1:c.68804C>A (TTN) | XP_024308868.1:p.Ser22935Tyr |