Linked Data
ClinVar Variation Id:
203027
ClinVar RCV Id:
RCV000275218
RCV000318676
RCV000267740
RCV000281918
RCV000375642
RCV000377474
RCV000642928
RCV001704932
dbSNP Id:
rs200148139
ExAC:
2:179407048 G / T
gnomAD v2:
2-179407048-G-T
gnomAD v3:
2-178542321-G-T
gnomAD v4:
2-178542321-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542321G>T , CM000664.2:g.178542321G>T | GRCh38 |
| NC_000002.11:g.179407048G>T , CM000664.1:g.179407048G>T | GRCh37 |
| NC_000002.10:g.179115294G>T | NCBI36 |
| NG_011618.3:g.293482C>A , LRG_391:g.293482C>A | |
| NG_051363.1:g.24495G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89731C>A (TTN) | ENSP00000343764.6:p.Arg29911Ser | |
| ENST00000342175.11:c.70816C>A (TTN) | ENSP00000340554.6:p.Arg23606Ser | |
| ENST00000359218.10:c.70615C>A (TTN) | ENSP00000352154.5:p.Arg23539Ser | |
| ENST00000342175.10:c.70816C>A (TTN) | ENSP00000340554.6:p.Arg23606Ser | |
| ENST00000342992.10:c.89731C>A (TTN) | ENSP00000343764.6:p.Arg29911Ser | |
| ENST00000359218.9:c.70615C>A (TTN) | ENSP00000352154.5:p.Arg23539Ser | |
| ENST00000460472.6:c.70240C>A (TTN) | ENSP00000434586.1:p.Arg23414Ser | |
| ENST00000589042.5:c.97435C>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32479Ser | |
| ENST00000591111.5:c.92512C>A (TTN) | ENSP00000465570.1:p.Arg30838Ser | |
| ENST00000615779.4:c.92512C>A (TTN) | ENSP00000483597.1:p.Arg30838Ser | |
| NM_001256850.1:c.92512C>A (TTN) | NP_001243779.1:p.Arg30838Ser | |
| NM_001267550.2:c.97435C>A (TTN) MANE Select | NP_001254479.2:p.Arg32479Ser | |
| NM_003319.4:c.70240C>A (TTN) | NP_003310.4:p.Arg23414Ser | |
| NM_133378.4:c.89731C>A (TTN) | NP_596869.4:p.Arg29911Ser | |
| NM_133432.3:c.70615C>A (TTN) | NP_597676.3:p.Arg23539Ser | |
| NM_133437.4:c.70816C>A (TTN) | NP_597681.4:p.Arg23606Ser | |
| NR_038271.1:n.446+18685G>T (TTN-AS1) | ||
| NR_038272.1:n.2003G>T (TTN-AS1) | ||
| XM_011511729.1:c.96532C>A (TTN) | XP_011510031.1:p.Arg32178Ser | |
| XM_011511730.1:c.70426C>A (TTN) | XP_011510032.1:p.Arg23476Ser | |
| XM_011511731.1:c.70285C>A (TTN) | XP_011510033.1:p.Arg23429Ser | |
| XM_017004819.1:c.96328C>A (TTN) | XP_016860308.1:p.Arg32110Ser | |
| XM_017004820.1:c.91726C>A (TTN) | XP_016860309.1:p.Arg30576Ser | |
| XM_017004821.1:c.91723C>A (TTN) | XP_016860310.1:p.Arg30575Ser | |
| XM_017004822.1:c.88765C>A (TTN) | XP_016860311.1:p.Arg29589Ser | |
| XM_017004823.1:c.70381C>A (TTN) | XP_016860312.1:p.Arg23461Ser | |
| XM_024453094.1:c.91876C>A (TTN) | XP_024308862.1:p.Arg30626Ser | |
| XM_024453095.1:c.91873C>A (TTN) | XP_024308863.1:p.Arg30625Ser | |
| XM_024453096.1:c.91306C>A (TTN) | XP_024308864.1:p.Arg30436Ser | |
| XM_024453097.1:c.88648C>A (TTN) | XP_024308865.1:p.Arg29550Ser | |
| XM_024453098.1:c.88567C>A (TTN) | XP_024308866.1:p.Arg29523Ser | |
| XM_024453099.1:c.70330C>A (TTN) | XP_024308867.1:p.Arg23444Ser | |
| XM_024453100.1:c.60184C>A (TTN) | XP_024308868.1:p.Arg20062Ser |