Linked Data
ClinVar Variation Id:
203097
dbSNP Id:
rs372263729
ExAC:
2:179395860 G / T
gnomAD v2:
2-179395860-G-T
gnomAD v3:
2-178531133-G-T
gnomAD v4:
2-178531133-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531133G>T , CM000664.2:g.178531133G>T | GRCh38 |
| NC_000002.11:g.179395860G>T , CM000664.1:g.179395860G>T | GRCh37 |
| NC_000002.10:g.179104106G>T | NCBI36 |
| NG_011618.3:g.304670C>A , LRG_391:g.304670C>A | |
| NG_051363.1:g.13307G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97778C>A (TTN) | ENSP00000343764.6:p.Thr32593Asn | |
| ENST00000342175.11:c.78863C>A (TTN) | ENSP00000340554.6:p.Thr26288Asn | |
| ENST00000359218.10:c.78662C>A (TTN) | ENSP00000352154.5:p.Thr26221Asn | |
| ENST00000342175.10:c.78863C>A (TTN) | ENSP00000340554.6:p.Thr26288Asn | |
| ENST00000342992.10:c.97778C>A (TTN) | ENSP00000343764.6:p.Thr32593Asn | |
| ENST00000359218.9:c.78662C>A (TTN) | ENSP00000352154.5:p.Thr26221Asn | |
| ENST00000460472.6:c.78287C>A (TTN) | ENSP00000434586.1:p.Thr26096Asn | |
| ENST00000589042.5:c.105482C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr35161Asn | |
| ENST00000591111.5:c.100559C>A (TTN) | ENSP00000465570.1:p.Thr33520Asn | |
| ENST00000615779.4:c.100559C>A (TTN) | ENSP00000483597.1:p.Thr33520Asn | |
| NM_001256850.1:c.100559C>A (TTN) | NP_001243779.1:p.Thr33520Asn | |
| NM_001267550.2:c.105482C>A (TTN) MANE Select | NP_001254479.2:p.Thr35161Asn | |
| NM_003319.4:c.78287C>A (TTN) | NP_003310.4:p.Thr26096Asn | |
| NM_133378.4:c.97778C>A (TTN) | NP_596869.4:p.Thr32593Asn | |
| NM_133432.3:c.78662C>A (TTN) | NP_597676.3:p.Thr26221Asn | |
| NM_133437.4:c.78863C>A (TTN) | NP_597681.4:p.Thr26288Asn | |
| NR_038271.1:n.446+7497G>T (TTN-AS1) | ||
| NR_038272.1:n.220-4599G>T (TTN-AS1) | ||
| XM_011511729.1:c.104579C>A (TTN) | XP_011510031.1:p.Thr34860Asn | |
| XM_011511730.1:c.78473C>A (TTN) | XP_011510032.1:p.Thr26158Asn | |
| XM_011511731.1:c.78332C>A (TTN) | XP_011510033.1:p.Thr26111Asn | |
| XM_017004819.1:c.104375C>A (TTN) | XP_016860308.1:p.Thr34792Asn | |
| XM_017004820.1:c.99773C>A (TTN) | XP_016860309.1:p.Thr33258Asn | |
| XM_017004821.1:c.99770C>A (TTN) | XP_016860310.1:p.Thr33257Asn | |
| XM_017004822.1:c.96812C>A (TTN) | XP_016860311.1:p.Thr32271Asn | |
| XM_017004823.1:c.78428C>A (TTN) | XP_016860312.1:p.Thr26143Asn | |
| XM_024453094.1:c.99923C>A (TTN) | XP_024308862.1:p.Thr33308Asn | |
| XM_024453095.1:c.99920C>A (TTN) | XP_024308863.1:p.Thr33307Asn | |
| XM_024453096.1:c.99353C>A (TTN) | XP_024308864.1:p.Thr33118Asn | |
| XM_024453097.1:c.96695C>A (TTN) | XP_024308865.1:p.Thr32232Asn | |
| XM_024453098.1:c.96614C>A (TTN) | XP_024308866.1:p.Thr32205Asn | |
| XM_024453099.1:c.78377C>A (TTN) | XP_024308867.1:p.Thr26126Asn | |
| XM_024453100.1:c.68231C>A (TTN) | XP_024308868.1:p.Thr22744Asn |