Linked Data
ClinVar Variation Id:
202795
ClinVar RCV Id:
RCV000262020
RCV000298416
RCV000406787
RCV000557186
RCV000341773
RCV000356447
RCV001721159
RCV002354501
dbSNP Id:
rs56378177
ExAC:
2:179448394 C / T
gnomAD v2:
2-179448394-C-T
gnomAD v3:
2-178583667-C-T
gnomAD v4:
2-178583667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583667C>T , CM000664.2:g.178583667C>T | GRCh38 |
| NC_000002.11:g.179448394C>T , CM000664.1:g.179448394C>T | GRCh37 |
| NC_000002.10:g.179156640C>T | NCBI36 |
| NG_011618.3:g.252136G>A , LRG_391:g.252136G>A | |
| NG_051363.1:g.65841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57811G>A (TTN) | ENSP00000343764.6:p.Ala19271Thr | |
| ENST00000342175.11:c.38896G>A (TTN) | ENSP00000340554.6:p.Ala12966Thr | |
| ENST00000359218.10:c.38695G>A (TTN) | ENSP00000352154.5:p.Ala12899Thr | |
| ENST00000342175.10:c.38896G>A (TTN) | ENSP00000340554.6:p.Ala12966Thr | |
| ENST00000342992.10:c.57811G>A (TTN) | ENSP00000343764.6:p.Ala19271Thr | |
| ENST00000359218.9:c.38695G>A (TTN) | ENSP00000352154.5:p.Ala12899Thr | |
| ENST00000460472.6:c.38320G>A (TTN) | ENSP00000434586.1:p.Ala12774Thr | |
| ENST00000589042.5:c.65515G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala21839Thr | |
| ENST00000591111.5:c.60592G>A (TTN) | ENSP00000465570.1:p.Ala20198Thr | |
| ENST00000615779.4:c.60592G>A (TTN) | ENSP00000483597.1:p.Ala20198Thr | |
| NM_001256850.1:c.60592G>A (TTN) | NP_001243779.1:p.Ala20198Thr | |
| NM_001267550.2:c.65515G>A (TTN) MANE Select | NP_001254479.2:p.Ala21839Thr | |
| NM_003319.4:c.38320G>A (TTN) | NP_003310.4:p.Ala12774Thr | |
| NM_133378.4:c.57811G>A (TTN) | NP_596869.4:p.Ala19271Thr | |
| NM_133432.3:c.38695G>A (TTN) | NP_597676.3:p.Ala12899Thr | |
| NM_133437.4:c.38896G>A (TTN) | NP_597681.4:p.Ala12966Thr | |
| NR_038271.1:n.596+12218C>T (TTN-AS1) | ||
| NR_038272.1:n.2513C>T (TTN-AS1) | ||
| XM_011511729.1:c.64612G>A (TTN) | XP_011510031.1:p.Ala21538Thr | |
| XM_011511730.1:c.38506G>A (TTN) | XP_011510032.1:p.Ala12836Thr | |
| XM_011511731.1:c.38365G>A (TTN) | XP_011510033.1:p.Ala12789Thr | |
| XM_017004819.1:c.64408G>A (TTN) | XP_016860308.1:p.Ala21470Thr | |
| XM_017004820.1:c.59806G>A (TTN) | XP_016860309.1:p.Ala19936Thr | |
| XM_017004821.1:c.59803G>A (TTN) | XP_016860310.1:p.Ala19935Thr | |
| XM_017004822.1:c.56845G>A (TTN) | XP_016860311.1:p.Ala18949Thr | |
| XM_017004823.1:c.38461G>A (TTN) | XP_016860312.1:p.Ala12821Thr | |
| XM_024453094.1:c.59956G>A (TTN) | XP_024308862.1:p.Ala19986Thr | |
| XM_024453095.1:c.59953G>A (TTN) | XP_024308863.1:p.Ala19985Thr | |
| XM_024453096.1:c.59386G>A (TTN) | XP_024308864.1:p.Ala19796Thr | |
| XM_024453097.1:c.56728G>A (TTN) | XP_024308865.1:p.Ala18910Thr | |
| XM_024453098.1:c.56647G>A (TTN) | XP_024308866.1:p.Ala18883Thr | |
| XM_024453099.1:c.38410G>A (TTN) | XP_024308867.1:p.Ala12804Thr | |
| XM_024453100.1:c.28264G>A (TTN) | XP_024308868.1:p.Ala9422Thr |