Linked Data
ClinVar Variation Id:
282653
ClinVar RCV Id:
RCV000277595
RCV000525933
RCV001170288
RCV001293057
RCV001293174
RCV001572757
RCV001840468
RCV001840469
RCV001840470
RCV001840471
RCV004543009
dbSNP Id:
rs539735520
ExAC:
2:179396995 G / A
gnomAD v2:
2-179396995-G-A
gnomAD v3:
2-178532268-G-A
gnomAD v4:
2-178532268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532268G>A , CM000664.2:g.178532268G>A | GRCh38 |
| NC_000002.11:g.179396995G>A , CM000664.1:g.179396995G>A | GRCh37 |
| NC_000002.10:g.179105241G>A | NCBI36 |
| NG_011618.3:g.303535C>T , LRG_391:g.303535C>T | |
| NG_051363.1:g.14442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96643C>T (TTN) | ENSP00000343764.6:p.Leu32215Phe | |
| ENST00000342175.11:c.77728C>T (TTN) | ENSP00000340554.6:p.Leu25910Phe | |
| ENST00000359218.10:c.77527C>T (TTN) | ENSP00000352154.5:p.Leu25843Phe | |
| ENST00000342175.10:c.77728C>T (TTN) | ENSP00000340554.6:p.Leu25910Phe | |
| ENST00000342992.10:c.96643C>T (TTN) | ENSP00000343764.6:p.Leu32215Phe | |
| ENST00000359218.9:c.77527C>T (TTN) | ENSP00000352154.5:p.Leu25843Phe | |
| ENST00000460472.6:c.77152C>T (TTN) | ENSP00000434586.1:p.Leu25718Phe | |
| ENST00000589042.5:c.104347C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu34783Phe | |
| ENST00000591111.5:c.99424C>T (TTN) | ENSP00000465570.1:p.Leu33142Phe | |
| ENST00000615779.4:c.99424C>T (TTN) | ENSP00000483597.1:p.Leu33142Phe | |
| NM_001256850.1:c.99424C>T (TTN) | NP_001243779.1:p.Leu33142Phe | |
| NM_001267550.2:c.104347C>T (TTN) MANE Select | NP_001254479.2:p.Leu34783Phe | |
| NM_003319.4:c.77152C>T (TTN) | NP_003310.4:p.Leu25718Phe | |
| NM_133378.4:c.96643C>T (TTN) | NP_596869.4:p.Leu32215Phe | |
| NM_133432.3:c.77527C>T (TTN) | NP_597676.3:p.Leu25843Phe | |
| NM_133437.4:c.77728C>T (TTN) | NP_597681.4:p.Leu25910Phe | |
| NR_038271.1:n.446+8632G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3464G>A (TTN-AS1) | ||
| XM_011511729.1:c.103444C>T (TTN) | XP_011510031.1:p.Leu34482Phe | |
| XM_011511730.1:c.77338C>T (TTN) | XP_011510032.1:p.Leu25780Phe | |
| XM_011511731.1:c.77197C>T (TTN) | XP_011510033.1:p.Leu25733Phe | |
| XM_017004819.1:c.103240C>T (TTN) | XP_016860308.1:p.Leu34414Phe | |
| XM_017004820.1:c.98638C>T (TTN) | XP_016860309.1:p.Leu32880Phe | |
| XM_017004821.1:c.98635C>T (TTN) | XP_016860310.1:p.Leu32879Phe | |
| XM_017004822.1:c.95677C>T (TTN) | XP_016860311.1:p.Leu31893Phe | |
| XM_017004823.1:c.77293C>T (TTN) | XP_016860312.1:p.Leu25765Phe | |
| XM_024453094.1:c.98788C>T (TTN) | XP_024308862.1:p.Leu32930Phe | |
| XM_024453095.1:c.98785C>T (TTN) | XP_024308863.1:p.Leu32929Phe | |
| XM_024453096.1:c.98218C>T (TTN) | XP_024308864.1:p.Leu32740Phe | |
| XM_024453097.1:c.95560C>T (TTN) | XP_024308865.1:p.Leu31854Phe | |
| XM_024453098.1:c.95479C>T (TTN) | XP_024308866.1:p.Leu31827Phe | |
| XM_024453099.1:c.77242C>T (TTN) | XP_024308867.1:p.Leu25748Phe | |
| XM_024453100.1:c.67096C>T (TTN) | XP_024308868.1:p.Leu22366Phe |