Linked Data
ClinVar Variation Id:
290366
dbSNP Id:
rs727505352
ExAC:
2:179443562 G / A
gnomAD v2:
2-179443562-G-A
gnomAD v3:
2-178578835-G-A
gnomAD v4:
2-178578835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578835G>A , CM000664.2:g.178578835G>A | GRCh38 |
| NC_000002.11:g.179443562G>A , CM000664.1:g.179443562G>A | GRCh37 |
| NC_000002.10:g.179151808G>A | NCBI36 |
| NG_011618.3:g.256968C>T , LRG_391:g.256968C>T | |
| NG_051363.1:g.61009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60491C>T (TTN) | ENSP00000343764.6:p.Ser20164Leu | |
| ENST00000342175.11:c.41576C>T (TTN) | ENSP00000340554.6:p.Ser13859Leu | |
| ENST00000359218.10:c.41375C>T (TTN) | ENSP00000352154.5:p.Ser13792Leu | |
| ENST00000342175.10:c.41576C>T (TTN) | ENSP00000340554.6:p.Ser13859Leu | |
| ENST00000342992.10:c.60491C>T (TTN) | ENSP00000343764.6:p.Ser20164Leu | |
| ENST00000359218.9:c.41375C>T (TTN) | ENSP00000352154.5:p.Ser13792Leu | |
| ENST00000460472.6:c.41000C>T (TTN) | ENSP00000434586.1:p.Ser13667Leu | |
| ENST00000589042.5:c.68195C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser22732Leu | |
| ENST00000591111.5:c.63272C>T (TTN) | ENSP00000465570.1:p.Ser21091Leu | |
| ENST00000615779.4:c.63272C>T (TTN) | ENSP00000483597.1:p.Ser21091Leu | |
| NM_001256850.1:c.63272C>T (TTN) | NP_001243779.1:p.Ser21091Leu | |
| NM_001267550.2:c.68195C>T (TTN) MANE Select | NP_001254479.2:p.Ser22732Leu | |
| NM_003319.4:c.41000C>T (TTN) | NP_003310.4:p.Ser13667Leu | |
| NM_133378.4:c.60491C>T (TTN) | NP_596869.4:p.Ser20164Leu | |
| NM_133432.3:c.41375C>T (TTN) | NP_597676.3:p.Ser13792Leu | |
| NM_133437.4:c.41576C>T (TTN) | NP_597681.4:p.Ser13859Leu | |
| NR_038271.1:n.596+7386G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-3737G>A (TTN-AS1) | ||
| XM_011511729.1:c.67292C>T (TTN) | XP_011510031.1:p.Ser22431Leu | |
| XM_011511730.1:c.41186C>T (TTN) | XP_011510032.1:p.Ser13729Leu | |
| XM_011511731.1:c.41045C>T (TTN) | XP_011510033.1:p.Ser13682Leu | |
| XM_017004819.1:c.67088C>T (TTN) | XP_016860308.1:p.Ser22363Leu | |
| XM_017004820.1:c.62486C>T (TTN) | XP_016860309.1:p.Ser20829Leu | |
| XM_017004821.1:c.62483C>T (TTN) | XP_016860310.1:p.Ser20828Leu | |
| XM_017004822.1:c.59525C>T (TTN) | XP_016860311.1:p.Ser19842Leu | |
| XM_017004823.1:c.41141C>T (TTN) | XP_016860312.1:p.Ser13714Leu | |
| XM_024453094.1:c.62636C>T (TTN) | XP_024308862.1:p.Ser20879Leu | |
| XM_024453095.1:c.62633C>T (TTN) | XP_024308863.1:p.Ser20878Leu | |
| XM_024453096.1:c.62066C>T (TTN) | XP_024308864.1:p.Ser20689Leu | |
| XM_024453097.1:c.59408C>T (TTN) | XP_024308865.1:p.Ser19803Leu | |
| XM_024453098.1:c.59327C>T (TTN) | XP_024308866.1:p.Ser19776Leu | |
| XM_024453099.1:c.41090C>T (TTN) | XP_024308867.1:p.Ser13697Leu | |
| XM_024453100.1:c.30944C>T (TTN) | XP_024308868.1:p.Ser10315Leu |