Linked Data
ClinVar Variation Id:
332691
ClinVar RCV Id:
RCV000266350
RCV000306321
RCV000348091
RCV000361010
RCV000394509
RCV001038472
RCV003486815
dbSNP Id:
rs886055222
gnomAD v3:
2-178532051-G-T
gnomAD v4:
2-178532051-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532051G>T , CM000664.2:g.178532051G>T | GRCh38 |
| NC_000002.11:g.179396778G>T , CM000664.1:g.179396778G>T | GRCh37 |
| NC_000002.10:g.179105024G>T | NCBI36 |
| NG_011618.3:g.303752C>A , LRG_391:g.303752C>A | |
| NG_051363.1:g.14225G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96860C>A (TTN) | ENSP00000343764.6:p.Ser32287Tyr | |
| ENST00000342175.11:c.77945C>A (TTN) | ENSP00000340554.6:p.Ser25982Tyr | |
| ENST00000359218.10:c.77744C>A (TTN) | ENSP00000352154.5:p.Ser25915Tyr | |
| ENST00000342175.10:c.77945C>A (TTN) | ENSP00000340554.6:p.Ser25982Tyr | |
| ENST00000342992.10:c.96860C>A (TTN) | ENSP00000343764.6:p.Ser32287Tyr | |
| ENST00000359218.9:c.77744C>A (TTN) | ENSP00000352154.5:p.Ser25915Tyr | |
| ENST00000460472.6:c.77369C>A (TTN) | ENSP00000434586.1:p.Ser25790Tyr | |
| ENST00000589042.5:c.104564C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser34855Tyr | |
| ENST00000591111.5:c.99641C>A (TTN) | ENSP00000465570.1:p.Ser33214Tyr | |
| ENST00000615779.4:c.99641C>A (TTN) | ENSP00000483597.1:p.Ser33214Tyr | |
| NM_001256850.1:c.99641C>A (TTN) | NP_001243779.1:p.Ser33214Tyr | |
| NM_001267550.2:c.104564C>A (TTN) MANE Select | NP_001254479.2:p.Ser34855Tyr | |
| NM_003319.4:c.77369C>A (TTN) | NP_003310.4:p.Ser25790Tyr | |
| NM_133378.4:c.96860C>A (TTN) | NP_596869.4:p.Ser32287Tyr | |
| NM_133432.3:c.77744C>A (TTN) | NP_597676.3:p.Ser25915Tyr | |
| NM_133437.4:c.77945C>A (TTN) | NP_597681.4:p.Ser25982Tyr | |
| NR_038271.1:n.446+8415G>T (TTN-AS1) | ||
| NR_038272.1:n.220-3681G>T (TTN-AS1) | ||
| XM_011511729.1:c.103661C>A (TTN) | XP_011510031.1:p.Ser34554Tyr | |
| XM_011511730.1:c.77555C>A (TTN) | XP_011510032.1:p.Ser25852Tyr | |
| XM_011511731.1:c.77414C>A (TTN) | XP_011510033.1:p.Ser25805Tyr | |
| XM_017004819.1:c.103457C>A (TTN) | XP_016860308.1:p.Ser34486Tyr | |
| XM_017004820.1:c.98855C>A (TTN) | XP_016860309.1:p.Ser32952Tyr | |
| XM_017004821.1:c.98852C>A (TTN) | XP_016860310.1:p.Ser32951Tyr | |
| XM_017004822.1:c.95894C>A (TTN) | XP_016860311.1:p.Ser31965Tyr | |
| XM_017004823.1:c.77510C>A (TTN) | XP_016860312.1:p.Ser25837Tyr | |
| XM_024453094.1:c.99005C>A (TTN) | XP_024308862.1:p.Ser33002Tyr | |
| XM_024453095.1:c.99002C>A (TTN) | XP_024308863.1:p.Ser33001Tyr | |
| XM_024453096.1:c.98435C>A (TTN) | XP_024308864.1:p.Ser32812Tyr | |
| XM_024453097.1:c.95777C>A (TTN) | XP_024308865.1:p.Ser31926Tyr | |
| XM_024453098.1:c.95696C>A (TTN) | XP_024308866.1:p.Ser31899Tyr | |
| XM_024453099.1:c.77459C>A (TTN) | XP_024308867.1:p.Ser25820Tyr | |
| XM_024453100.1:c.67313C>A (TTN) | XP_024308868.1:p.Ser22438Tyr |