Linked Data
ClinVar Variation Id:
332740
ClinVar RCV Id:
RCV000276661
RCV000311836
RCV000356207
RCV000368821
RCV000394705
RCV000470428
RCV000728173
RCV001613083
RCV002356451
dbSNP Id:
rs374612925
ExAC:
2:179421747 T / C
gnomAD v2:
2-179421747-T-C
gnomAD v3:
2-178557020-T-C
gnomAD v4:
2-178557020-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557020T>C , CM000664.2:g.178557020T>C | GRCh38 |
| NC_000002.11:g.179421747T>C , CM000664.1:g.179421747T>C | GRCh37 |
| NC_000002.10:g.179129993T>C | NCBI36 |
| NG_011618.3:g.278783A>G , LRG_391:g.278783A>G | |
| NG_051363.1:g.39194T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80430A>G (TTN) | ENSP00000343764.6:p.Pro26810= | |
| ENST00000342175.11:c.61515A>G (TTN) | ENSP00000340554.6:p.Pro20505= | |
| ENST00000359218.10:c.61314A>G (TTN) | ENSP00000352154.5:p.Pro20438= | |
| ENST00000342175.10:c.61515A>G (TTN) | ENSP00000340554.6:p.Pro20505= | |
| ENST00000342992.10:c.80430A>G (TTN) | ENSP00000343764.6:p.Pro26810= | |
| ENST00000359218.9:c.61314A>G (TTN) | ENSP00000352154.5:p.Pro20438= | |
| ENST00000460472.6:c.60939A>G (TTN) | ENSP00000434586.1:p.Pro20313= | |
| ENST00000589042.5:c.88134A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro29378= | |
| ENST00000591111.5:c.83211A>G (TTN) | ENSP00000465570.1:p.Pro27737= | |
| ENST00000615779.4:c.83211A>G (TTN) | ENSP00000483597.1:p.Pro27737= | |
| NM_001256850.1:c.83211A>G (TTN) | NP_001243779.1:p.Pro27737= | |
| NM_001267550.2:c.88134A>G (TTN) MANE Select | NP_001254479.2:p.Pro29378= | |
| NM_003319.4:c.60939A>G (TTN) | NP_003310.4:p.Pro20313= | |
| NM_133378.4:c.80430A>G (TTN) | NP_596869.4:p.Pro26810= | |
| NM_133432.3:c.61314A>G (TTN) | NP_597676.3:p.Pro20438= | |
| NM_133437.4:c.61515A>G (TTN) | NP_597681.4:p.Pro20505= | |
| NR_038271.1:n.447-14280T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+14659T>C (TTN-AS1) | ||
| XM_011511729.1:c.87231A>G (TTN) | XP_011510031.1:p.Pro29077= | |
| XM_011511730.1:c.61125A>G (TTN) | XP_011510032.1:p.Pro20375= | |
| XM_011511731.1:c.60984A>G (TTN) | XP_011510033.1:p.Pro20328= | |
| XM_017004819.1:c.87027A>G (TTN) | XP_016860308.1:p.Pro29009= | |
| XM_017004820.1:c.82425A>G (TTN) | XP_016860309.1:p.Pro27475= | |
| XM_017004821.1:c.82422A>G (TTN) | XP_016860310.1:p.Pro27474= | |
| XM_017004822.1:c.79464A>G (TTN) | XP_016860311.1:p.Pro26488= | |
| XM_017004823.1:c.61080A>G (TTN) | XP_016860312.1:p.Pro20360= | |
| XM_024453094.1:c.82575A>G (TTN) | XP_024308862.1:p.Pro27525= | |
| XM_024453095.1:c.82572A>G (TTN) | XP_024308863.1:p.Pro27524= | |
| XM_024453096.1:c.82005A>G (TTN) | XP_024308864.1:p.Pro27335= | |
| XM_024453097.1:c.79347A>G (TTN) | XP_024308865.1:p.Pro26449= | |
| XM_024453098.1:c.79266A>G (TTN) | XP_024308866.1:p.Pro26422= | |
| XM_024453099.1:c.61029A>G (TTN) | XP_024308867.1:p.Pro20343= | |
| XM_024453100.1:c.50883A>G (TTN) | XP_024308868.1:p.Pro16961= |