Linked Data
ClinVar Variation Id:
332687
ClinVar RCV Id:
RCV000281757
RCV000321782
RCV000372813
RCV000578001
RCV000616776
RCV000577947
RCV003137937
dbSNP Id:
rs758458467
ExAC:
2:179395959 G / A
gnomAD v2:
2-179395959-G-A
gnomAD v3:
2-178531232-G-A
gnomAD v4:
2-178531232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531232G>A , CM000664.2:g.178531232G>A | GRCh38 |
| NC_000002.11:g.179395959G>A , CM000664.1:g.179395959G>A | GRCh37 |
| NC_000002.10:g.179104205G>A | NCBI36 |
| NG_011618.3:g.304571C>T , LRG_391:g.304571C>T | |
| NG_051363.1:g.13406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97679C>T (TTN) | ENSP00000343764.6:p.Ala32560Val | |
| ENST00000342175.11:c.78764C>T (TTN) | ENSP00000340554.6:p.Ala26255Val | |
| ENST00000359218.10:c.78563C>T (TTN) | ENSP00000352154.5:p.Ala26188Val | |
| ENST00000342175.10:c.78764C>T (TTN) | ENSP00000340554.6:p.Ala26255Val | |
| ENST00000342992.10:c.97679C>T (TTN) | ENSP00000343764.6:p.Ala32560Val | |
| ENST00000359218.9:c.78563C>T (TTN) | ENSP00000352154.5:p.Ala26188Val | |
| ENST00000460472.6:c.78188C>T (TTN) | ENSP00000434586.1:p.Ala26063Val | |
| ENST00000589042.5:c.105383C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala35128Val | |
| ENST00000591111.5:c.100460C>T (TTN) | ENSP00000465570.1:p.Ala33487Val | |
| ENST00000615779.4:c.100460C>T (TTN) | ENSP00000483597.1:p.Ala33487Val | |
| NM_001256850.1:c.100460C>T (TTN) | NP_001243779.1:p.Ala33487Val | |
| NM_001267550.2:c.105383C>T (TTN) MANE Select | NP_001254479.2:p.Ala35128Val | |
| NM_003319.4:c.78188C>T (TTN) | NP_003310.4:p.Ala26063Val | |
| NM_133378.4:c.97679C>T (TTN) | NP_596869.4:p.Ala32560Val | |
| NM_133432.3:c.78563C>T (TTN) | NP_597676.3:p.Ala26188Val | |
| NM_133437.4:c.78764C>T (TTN) | NP_597681.4:p.Ala26255Val | |
| NR_038271.1:n.446+7596G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4500G>A (TTN-AS1) | ||
| XM_011511729.1:c.104480C>T (TTN) | XP_011510031.1:p.Ala34827Val | |
| XM_011511730.1:c.78374C>T (TTN) | XP_011510032.1:p.Ala26125Val | |
| XM_011511731.1:c.78233C>T (TTN) | XP_011510033.1:p.Ala26078Val | |
| XM_017004819.1:c.104276C>T (TTN) | XP_016860308.1:p.Ala34759Val | |
| XM_017004820.1:c.99674C>T (TTN) | XP_016860309.1:p.Ala33225Val | |
| XM_017004821.1:c.99671C>T (TTN) | XP_016860310.1:p.Ala33224Val | |
| XM_017004822.1:c.96713C>T (TTN) | XP_016860311.1:p.Ala32238Val | |
| XM_017004823.1:c.78329C>T (TTN) | XP_016860312.1:p.Ala26110Val | |
| XM_024453094.1:c.99824C>T (TTN) | XP_024308862.1:p.Ala33275Val | |
| XM_024453095.1:c.99821C>T (TTN) | XP_024308863.1:p.Ala33274Val | |
| XM_024453096.1:c.99254C>T (TTN) | XP_024308864.1:p.Ala33085Val | |
| XM_024453097.1:c.96596C>T (TTN) | XP_024308865.1:p.Ala32199Val | |
| XM_024453098.1:c.96515C>T (TTN) | XP_024308866.1:p.Ala32172Val | |
| XM_024453099.1:c.78278C>T (TTN) | XP_024308867.1:p.Ala26093Val | |
| XM_024453100.1:c.68132C>T (TTN) | XP_024308868.1:p.Ala22711Val |