Linked Data
ClinVar Variation Id:
47243
ClinVar RCV Id:
RCV000040513
RCV000266781
RCV000269962
RCV000323852
RCV000384336
RCV000617644
RCV000327353
RCV000456180
RCV001703904
dbSNP Id:
rs200343420
ExAC:
2:179445208 C / T
gnomAD v2:
2-179445208-C-T
gnomAD v3:
2-178580481-C-T
gnomAD v4:
2-178580481-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580481C>T , CM000664.2:g.178580481C>T | GRCh38 |
| NC_000002.11:g.179445208C>T , CM000664.1:g.179445208C>T | GRCh37 |
| NC_000002.10:g.179153454C>T | NCBI36 |
| NG_011618.3:g.255322G>A , LRG_391:g.255322G>A | |
| NG_051363.1:g.62655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59194G>A (TTN) | ENSP00000343764.6:p.Val19732Ile | |
| ENST00000342175.11:c.40279G>A (TTN) | ENSP00000340554.6:p.Val13427Ile | |
| ENST00000359218.10:c.40078G>A (TTN) | ENSP00000352154.5:p.Val13360Ile | |
| ENST00000342175.10:c.40279G>A (TTN) | ENSP00000340554.6:p.Val13427Ile | |
| ENST00000342992.10:c.59194G>A (TTN) | ENSP00000343764.6:p.Val19732Ile | |
| ENST00000359218.9:c.40078G>A (TTN) | ENSP00000352154.5:p.Val13360Ile | |
| ENST00000460472.6:c.39703G>A (TTN) | ENSP00000434586.1:p.Val13235Ile | |
| ENST00000589042.5:c.66898G>A (TTN) MANE Select | ENSP00000467141.1:p.Val22300Ile | |
| ENST00000591111.5:c.61975G>A (TTN) | ENSP00000465570.1:p.Val20659Ile | |
| ENST00000615779.4:c.61975G>A (TTN) | ENSP00000483597.1:p.Val20659Ile | |
| NM_001256850.1:c.61975G>A (TTN) | NP_001243779.1:p.Val20659Ile | |
| NM_001267550.2:c.66898G>A (TTN) MANE Select | NP_001254479.2:p.Val22300Ile | |
| NM_003319.4:c.39703G>A (TTN) | NP_003310.4:p.Val13235Ile | |
| NM_133378.4:c.59194G>A (TTN) | NP_596869.4:p.Val19732Ile | |
| NM_133432.3:c.40078G>A (TTN) | NP_597676.3:p.Val13360Ile | |
| NM_133437.4:c.40279G>A (TTN) | NP_597681.4:p.Val13427Ile | |
| NR_038271.1:n.596+9032C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2091C>T (TTN-AS1) | ||
| XM_011511729.1:c.65995G>A (TTN) | XP_011510031.1:p.Val21999Ile | |
| XM_011511730.1:c.39889G>A (TTN) | XP_011510032.1:p.Val13297Ile | |
| XM_011511731.1:c.39748G>A (TTN) | XP_011510033.1:p.Val13250Ile | |
| XM_017004819.1:c.65791G>A (TTN) | XP_016860308.1:p.Val21931Ile | |
| XM_017004820.1:c.61189G>A (TTN) | XP_016860309.1:p.Val20397Ile | |
| XM_017004821.1:c.61186G>A (TTN) | XP_016860310.1:p.Val20396Ile | |
| XM_017004822.1:c.58228G>A (TTN) | XP_016860311.1:p.Val19410Ile | |
| XM_017004823.1:c.39844G>A (TTN) | XP_016860312.1:p.Val13282Ile | |
| XM_024453094.1:c.61339G>A (TTN) | XP_024308862.1:p.Val20447Ile | |
| XM_024453095.1:c.61336G>A (TTN) | XP_024308863.1:p.Val20446Ile | |
| XM_024453096.1:c.60769G>A (TTN) | XP_024308864.1:p.Val20257Ile | |
| XM_024453097.1:c.58111G>A (TTN) | XP_024308865.1:p.Val19371Ile | |
| XM_024453098.1:c.58030G>A (TTN) | XP_024308866.1:p.Val19344Ile | |
| XM_024453099.1:c.39793G>A (TTN) | XP_024308867.1:p.Val13265Ile | |
| XM_024453100.1:c.29647G>A (TTN) | XP_024308868.1:p.Val9883Ile |