Linked Data
ClinVar Variation Id:
137821
ClinVar RCV Id:
RCV000154866
RCV000328511
RCV000293396
RCV000352785
RCV000382989
RCV000394329
RCV000619495
RCV000467771
RCV000769838
RCV001079489
dbSNP Id:
rs371480338
ExAC:
2:179392456 G / A
gnomAD v2:
2-179392456-G-A
gnomAD v3:
2-178527729-G-A
gnomAD v4:
2-178527729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527729G>A , CM000664.2:g.178527729G>A | GRCh38 |
| NC_000002.11:g.179392456G>A , CM000664.1:g.179392456G>A | GRCh37 |
| NC_000002.10:g.179100702G>A | NCBI36 |
| NG_011618.3:g.308074C>T , LRG_391:g.308074C>T | |
| NG_051363.1:g.9903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99693C>T (TTN) | ENSP00000343764.6:p.Ser33231= | |
| ENST00000342175.11:c.80778C>T (TTN) | ENSP00000340554.6:p.Ser26926= | |
| ENST00000359218.10:c.80577C>T (TTN) | ENSP00000352154.5:p.Ser26859= | |
| ENST00000342175.10:c.80778C>T (TTN) | ENSP00000340554.6:p.Ser26926= | |
| ENST00000342992.10:c.99693C>T (TTN) | ENSP00000343764.6:p.Ser33231= | |
| ENST00000359218.9:c.80577C>T (TTN) | ENSP00000352154.5:p.Ser26859= | |
| ENST00000460472.6:c.80202C>T (TTN) | ENSP00000434586.1:p.Ser26734= | |
| ENST00000589042.5:c.107397C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser35799= | |
| ENST00000591111.5:c.102474C>T (TTN) | ENSP00000465570.1:p.Ser34158= | |
| ENST00000615779.4:c.102474C>T (TTN) | ENSP00000483597.1:p.Ser34158= | |
| NM_001256850.1:c.102474C>T (TTN) | NP_001243779.1:p.Ser34158= | |
| NM_001267550.2:c.107397C>T (TTN) MANE Select | NP_001254479.2:p.Ser35799= | |
| NM_003319.4:c.80202C>T (TTN) | NP_003310.4:p.Ser26734= | |
| NM_133378.4:c.99693C>T (TTN) | NP_596869.4:p.Ser33231= | |
| NM_133432.3:c.80577C>T (TTN) | NP_597676.3:p.Ser26859= | |
| NM_133437.4:c.80778C>T (TTN) | NP_597681.4:p.Ser26926= | |
| NR_038271.1:n.446+4093G>A (TTN-AS1) | ||
| NR_038272.1:n.219+4093G>A (TTN-AS1) | ||
| XM_011511729.1:c.106494C>T (TTN) | XP_011510031.1:p.Ser35498= | |
| XM_011511730.1:c.80388C>T (TTN) | XP_011510032.1:p.Ser26796= | |
| XM_011511731.1:c.80247C>T (TTN) | XP_011510033.1:p.Ser26749= | |
| XM_017004819.1:c.106290C>T (TTN) | XP_016860308.1:p.Ser35430= | |
| XM_017004820.1:c.101688C>T (TTN) | XP_016860309.1:p.Ser33896= | |
| XM_017004821.1:c.101685C>T (TTN) | XP_016860310.1:p.Ser33895= | |
| XM_017004822.1:c.98727C>T (TTN) | XP_016860311.1:p.Ser32909= | |
| XM_017004823.1:c.80343C>T (TTN) | XP_016860312.1:p.Ser26781= | |
| XM_024453094.1:c.101838C>T (TTN) | XP_024308862.1:p.Ser33946= | |
| XM_024453095.1:c.101835C>T (TTN) | XP_024308863.1:p.Ser33945= | |
| XM_024453096.1:c.101268C>T (TTN) | XP_024308864.1:p.Ser33756= | |
| XM_024453097.1:c.98610C>T (TTN) | XP_024308865.1:p.Ser32870= | |
| XM_024453098.1:c.98529C>T (TTN) | XP_024308866.1:p.Ser32843= | |
| XM_024453099.1:c.80292C>T (TTN) | XP_024308867.1:p.Ser26764= | |
| XM_024453100.1:c.70146C>T (TTN) | XP_024308868.1:p.Ser23382= |