Linked Data
ClinVar Variation Id:
282416
ClinVar RCV Id:
RCV000308416
RCV000312283
RCV000348047
RCV000354415
RCV000394555
RCV000403199
RCV000643140
RCV003235173
dbSNP Id:
rs747161494
ExAC:
2:179395968 G / A
gnomAD v2:
2-179395968-G-A
gnomAD v3:
2-178531241-G-A
gnomAD v4:
2-178531241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531241G>A , CM000664.2:g.178531241G>A | GRCh38 |
| NC_000002.11:g.179395968G>A , CM000664.1:g.179395968G>A | GRCh37 |
| NC_000002.10:g.179104214G>A | NCBI36 |
| NG_011618.3:g.304562C>T , LRG_391:g.304562C>T | |
| NG_051363.1:g.13415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97670C>T (TTN) | ENSP00000343764.6:p.Thr32557Met | |
| ENST00000342175.11:c.78755C>T (TTN) | ENSP00000340554.6:p.Thr26252Met | |
| ENST00000359218.10:c.78554C>T (TTN) | ENSP00000352154.5:p.Thr26185Met | |
| ENST00000342175.10:c.78755C>T (TTN) | ENSP00000340554.6:p.Thr26252Met | |
| ENST00000342992.10:c.97670C>T (TTN) | ENSP00000343764.6:p.Thr32557Met | |
| ENST00000359218.9:c.78554C>T (TTN) | ENSP00000352154.5:p.Thr26185Met | |
| ENST00000460472.6:c.78179C>T (TTN) | ENSP00000434586.1:p.Thr26060Met | |
| ENST00000589042.5:c.105374C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35125Met | |
| ENST00000591111.5:c.100451C>T (TTN) | ENSP00000465570.1:p.Thr33484Met | |
| ENST00000615779.4:c.100451C>T (TTN) | ENSP00000483597.1:p.Thr33484Met | |
| NM_001256850.1:c.100451C>T (TTN) | NP_001243779.1:p.Thr33484Met | |
| NM_001267550.2:c.105374C>T (TTN) MANE Select | NP_001254479.2:p.Thr35125Met | |
| NM_003319.4:c.78179C>T (TTN) | NP_003310.4:p.Thr26060Met | |
| NM_133378.4:c.97670C>T (TTN) | NP_596869.4:p.Thr32557Met | |
| NM_133432.3:c.78554C>T (TTN) | NP_597676.3:p.Thr26185Met | |
| NM_133437.4:c.78755C>T (TTN) | NP_597681.4:p.Thr26252Met | |
| NR_038271.1:n.446+7605G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4491G>A (TTN-AS1) | ||
| XM_011511729.1:c.104471C>T (TTN) | XP_011510031.1:p.Thr34824Met | |
| XM_011511730.1:c.78365C>T (TTN) | XP_011510032.1:p.Thr26122Met | |
| XM_011511731.1:c.78224C>T (TTN) | XP_011510033.1:p.Thr26075Met | |
| XM_017004819.1:c.104267C>T (TTN) | XP_016860308.1:p.Thr34756Met | |
| XM_017004820.1:c.99665C>T (TTN) | XP_016860309.1:p.Thr33222Met | |
| XM_017004821.1:c.99662C>T (TTN) | XP_016860310.1:p.Thr33221Met | |
| XM_017004822.1:c.96704C>T (TTN) | XP_016860311.1:p.Thr32235Met | |
| XM_017004823.1:c.78320C>T (TTN) | XP_016860312.1:p.Thr26107Met | |
| XM_024453094.1:c.99815C>T (TTN) | XP_024308862.1:p.Thr33272Met | |
| XM_024453095.1:c.99812C>T (TTN) | XP_024308863.1:p.Thr33271Met | |
| XM_024453096.1:c.99245C>T (TTN) | XP_024308864.1:p.Thr33082Met | |
| XM_024453097.1:c.96587C>T (TTN) | XP_024308865.1:p.Thr32196Met | |
| XM_024453098.1:c.96506C>T (TTN) | XP_024308866.1:p.Thr32169Met | |
| XM_024453099.1:c.78269C>T (TTN) | XP_024308867.1:p.Thr26090Met | |
| XM_024453100.1:c.68123C>T (TTN) | XP_024308868.1:p.Thr22708Met |