Linked Data
ClinVar Variation Id:
203099
ClinVar RCV Id:
RCV000261339
RCV000319264
RCV000322851
RCV000376209
RCV000379527
RCV000643648
RCV001704941
RCV002408823
dbSNP Id:
rs774524898
ExAC:
2:179395830 G / A
gnomAD v2:
2-179395830-G-A
gnomAD v3:
2-178531103-G-A
gnomAD v4:
2-178531103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531103G>A , CM000664.2:g.178531103G>A | GRCh38 |
| NC_000002.11:g.179395830G>A , CM000664.1:g.179395830G>A | GRCh37 |
| NC_000002.10:g.179104076G>A | NCBI36 |
| NG_011618.3:g.304700C>T , LRG_391:g.304700C>T | |
| NG_051363.1:g.13277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97808C>T (TTN) | ENSP00000343764.6:p.Thr32603Ile | |
| ENST00000342175.11:c.78893C>T (TTN) | ENSP00000340554.6:p.Thr26298Ile | |
| ENST00000359218.10:c.78692C>T (TTN) | ENSP00000352154.5:p.Thr26231Ile | |
| ENST00000342175.10:c.78893C>T (TTN) | ENSP00000340554.6:p.Thr26298Ile | |
| ENST00000342992.10:c.97808C>T (TTN) | ENSP00000343764.6:p.Thr32603Ile | |
| ENST00000359218.9:c.78692C>T (TTN) | ENSP00000352154.5:p.Thr26231Ile | |
| ENST00000460472.6:c.78317C>T (TTN) | ENSP00000434586.1:p.Thr26106Ile | |
| ENST00000589042.5:c.105512C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35171Ile | |
| ENST00000591111.5:c.100589C>T (TTN) | ENSP00000465570.1:p.Thr33530Ile | |
| ENST00000615779.4:c.100589C>T (TTN) | ENSP00000483597.1:p.Thr33530Ile | |
| NM_001256850.1:c.100589C>T (TTN) | NP_001243779.1:p.Thr33530Ile | |
| NM_001267550.2:c.105512C>T (TTN) MANE Select | NP_001254479.2:p.Thr35171Ile | |
| NM_003319.4:c.78317C>T (TTN) | NP_003310.4:p.Thr26106Ile | |
| NM_133378.4:c.97808C>T (TTN) | NP_596869.4:p.Thr32603Ile | |
| NM_133432.3:c.78692C>T (TTN) | NP_597676.3:p.Thr26231Ile | |
| NM_133437.4:c.78893C>T (TTN) | NP_597681.4:p.Thr26298Ile | |
| NR_038271.1:n.446+7467G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4629G>A (TTN-AS1) | ||
| XM_011511729.1:c.104609C>T (TTN) | XP_011510031.1:p.Thr34870Ile | |
| XM_011511730.1:c.78503C>T (TTN) | XP_011510032.1:p.Thr26168Ile | |
| XM_011511731.1:c.78362C>T (TTN) | XP_011510033.1:p.Thr26121Ile | |
| XM_017004819.1:c.104405C>T (TTN) | XP_016860308.1:p.Thr34802Ile | |
| XM_017004820.1:c.99803C>T (TTN) | XP_016860309.1:p.Thr33268Ile | |
| XM_017004821.1:c.99800C>T (TTN) | XP_016860310.1:p.Thr33267Ile | |
| XM_017004822.1:c.96842C>T (TTN) | XP_016860311.1:p.Thr32281Ile | |
| XM_017004823.1:c.78458C>T (TTN) | XP_016860312.1:p.Thr26153Ile | |
| XM_024453094.1:c.99953C>T (TTN) | XP_024308862.1:p.Thr33318Ile | |
| XM_024453095.1:c.99950C>T (TTN) | XP_024308863.1:p.Thr33317Ile | |
| XM_024453096.1:c.99383C>T (TTN) | XP_024308864.1:p.Thr33128Ile | |
| XM_024453097.1:c.96725C>T (TTN) | XP_024308865.1:p.Thr32242Ile | |
| XM_024453098.1:c.96644C>T (TTN) | XP_024308866.1:p.Thr32215Ile | |
| XM_024453099.1:c.78407C>T (TTN) | XP_024308867.1:p.Thr26136Ile | |
| XM_024453100.1:c.68261C>T (TTN) | XP_024308868.1:p.Thr22754Ile |