Linked Data
ClinVar Variation Id:
47013
ClinVar RCV Id:
RCV000040283
RCV000082410
RCV000299345
RCV000314422
RCV000349511
RCV000369133
RCV000406274
RCV000619989
RCV000852853
RCV001083906
RCV001798153
dbSNP Id:
rs146181477
ExAC:
2:179482533 G / T
gnomAD v2:
2-179482533-G-T
gnomAD v3:
2-178617806-G-T
gnomAD v4:
2-178617806-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617806G>T , CM000664.2:g.178617806G>T | GRCh38 |
| NC_000002.11:g.179482533G>T , CM000664.1:g.179482533G>T | GRCh37 |
| NC_000002.10:g.179190778G>T | NCBI36 |
| NG_011618.3:g.217997C>A , LRG_391:g.217997C>A | |
| NG_051363.1:g.99980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39841C>A (TTN) | ENSP00000343764.6:p.Pro13281Thr | |
| ENST00000342175.11:c.20926C>A (TTN) | ENSP00000340554.6:p.Pro6976Thr | |
| ENST00000359218.10:c.20725C>A (TTN) | ENSP00000352154.5:p.Pro6909Thr | |
| ENST00000342175.10:c.20926C>A (TTN) | ENSP00000340554.6:p.Pro6976Thr | |
| ENST00000342992.10:c.39841C>A (TTN) | ENSP00000343764.6:p.Pro13281Thr | |
| ENST00000359218.9:c.20725C>A (TTN) | ENSP00000352154.5:p.Pro6909Thr | |
| ENST00000460472.6:c.20350C>A (TTN) | ENSP00000434586.1:p.Pro6784Thr | |
| ENST00000589042.5:c.47545C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro15849Thr | |
| ENST00000591111.5:c.42622C>A (TTN) | ENSP00000465570.1:p.Pro14208Thr | |
| ENST00000615779.4:c.42622C>A (TTN) | ENSP00000483597.1:p.Pro14208Thr | |
| NM_001256850.1:c.42622C>A (TTN) | NP_001243779.1:p.Pro14208Thr | |
| NM_001267550.2:c.47545C>A (TTN) MANE Select | NP_001254479.2:p.Pro15849Thr | |
| NM_003319.4:c.20350C>A (TTN) | NP_003310.4:p.Pro6784Thr | |
| NM_133378.4:c.39841C>A (TTN) | NP_596869.4:p.Pro13281Thr | |
| NM_133432.3:c.20725C>A (TTN) | NP_597676.3:p.Pro6909Thr | |
| NM_133437.4:c.20926C>A (TTN) | NP_597681.4:p.Pro6976Thr | |
| NR_038271.1:n.1605-1947G>T (TTN-AS1) | ||
| XM_011511729.1:c.46642C>A (TTN) | XP_011510031.1:p.Pro15548Thr | |
| XM_011511730.1:c.20536C>A (TTN) | XP_011510032.1:p.Pro6846Thr | |
| XM_011511731.1:c.20395C>A (TTN) | XP_011510033.1:p.Pro6799Thr | |
| XM_017004819.1:c.46438C>A (TTN) | XP_016860308.1:p.Pro15480Thr | |
| XM_017004820.1:c.41836C>A (TTN) | XP_016860309.1:p.Pro13946Thr | |
| XM_017004821.1:c.41833C>A (TTN) | XP_016860310.1:p.Pro13945Thr | |
| XM_017004822.1:c.38875C>A (TTN) | XP_016860311.1:p.Pro12959Thr | |
| XM_017004823.1:c.20491C>A (TTN) | XP_016860312.1:p.Pro6831Thr | |
| XM_024453094.1:c.41986C>A (TTN) | XP_024308862.1:p.Pro13996Thr | |
| XM_024453095.1:c.41983C>A (TTN) | XP_024308863.1:p.Pro13995Thr | |
| XM_024453096.1:c.41416C>A (TTN) | XP_024308864.1:p.Pro13806Thr | |
| XM_024453097.1:c.38758C>A (TTN) | XP_024308865.1:p.Pro12920Thr | |
| XM_024453098.1:c.38677C>A (TTN) | XP_024308866.1:p.Pro12893Thr | |
| XM_024453099.1:c.20440C>A (TTN) | XP_024308867.1:p.Pro6814Thr | |
| XM_024453100.1:c.10294C>A (TTN) | XP_024308868.1:p.Pro3432Thr |