Linked Data
ClinVar Variation Id:
369683
ClinVar RCV Id:
RCV000408605
dbSNP Id:
rs1057516047
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073816C>T , CM000664.2:g.47073816C>T | GRCh38 |
| NC_000002.11:g.47300955C>T , CM000664.1:g.47300955C>T | GRCh37 |
| NC_000002.10:g.47154459C>T | NCBI36 |
| NG_034143.1:g.162688C>T | |
| NG_034143.2:g.162688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4303C>T (TTC7A) | ||
| ENST00000698503.1:n.2476C>T (TTC7A) | ||
| ENST00000319190.11:c.2470C>T (TTC7A) MANE Select | ENSP00000316699.5:p.Gln824Ter | |
| ENST00000651101.1:n.1068C>T (TTC7A) | ||
| ENST00000651415.1:n.1261C>T (TTC7A) | ||
| ENST00000652236.1:n.1171C>T (TTC7A) | ||
| ENST00000652568.1:n.1143C>T (TTC7A) | ||
| ENST00000319190.9:c.2470C>T (TTC7A) | ENSP00000316699.5:p.Gln824Ter | |
| ENST00000394850.6:c.2542C>T (TTC7A) | ENSP00000378320.2:p.Gln848Ter | |
| ENST00000409245.5:c.2368C>T (TTC7A) | ENSP00000386307.1:p.Gln790Ter | |
| ENST00000409825.5:c.2418C>T (TTC7A) | ||
| ENST00000422269.1:c.787-7679G>A | ||
| ENST00000441914.5:c.2311C>T (TTC7A) | ||
| ENST00000464527.2:n.399-7679G>A (STPG4) | ||
| ENST00000482548.1:n.402-5260G>A (STPG4) | ||
| ENST00000484061.5:n.1577C>T (TTC7A) | ||
| ENST00000491786.5:n.1874C>T (TTC7A) | ||
| ENST00000496939.1:n.416-26897G>A (STPG4) | ||
| NM_001288951.1:c.2542C>T (TTC7A) | NP_001275880.1:p.Gln848Ter | |
| NM_001288953.1:c.2368C>T (TTC7A) | NP_001275882.1:p.Gln790Ter | |
| NM_001288955.1:c.1408C>T (TTC7A) | NP_001275884.1:p.Gln470Ter | |
| NM_020458.3:c.2470C>T (TTC7A) | NP_065191.2:p.Gln824Ter | |
| XM_005264439.2:c.2113C>T (TTC7A) | XP_005264496.1:p.Gln705Ter | |
| XM_011532998.1:c.2113C>T (TTC7A) | XP_011531300.1:p.Gln705Ter | |
| XM_011533000.1:c.1690C>T (TTC7A) | XP_011531302.1:p.Gln564Ter | |
| XM_011533001.1:c.1423C>T (TTC7A) | XP_011531303.1:p.Gln475Ter | |
| XM_005264439.4:c.2113C>T (TTC7A) | XP_005264496.1:p.Gln705Ter | |
| XM_011532998.3:c.2113C>T (TTC7A) | XP_011531300.1:p.Gln705Ter | |
| XM_011533000.3:c.1690C>T (TTC7A) | XP_011531302.1:p.Gln564Ter | |
| XM_011533001.3:c.1423C>T (TTC7A) | XP_011531303.1:p.Gln475Ter | |
| XM_017004524.1:c.2353C>T (TTC7A) | XP_016860013.1:p.Gln785Ter | |
| XM_017004525.1:c.2302C>T (TTC7A) | XP_016860014.1:p.Gln768Ter | |
| XM_017004526.1:c.2221C>T (TTC7A) | XP_016860015.1:p.Gln741Ter | |
| XM_024453013.1:c.1435C>T (TTC7A) | XP_024308781.1:p.Gln479Ter | |
| NM_020458.4:c.2470C>T (TTC7A) MANE Select | NP_065191.2:p.Gln824Ter | |
| NM_001288951.2:c.2542C>T (TTC7A) | NP_001275880.1:p.Gln848Ter | |
| NM_001288953.2:c.2368C>T (TTC7A) | NP_001275882.1:p.Gln790Ter | |
| NM_001288955.2:c.1408C>T (TTC7A) | NP_001275884.1:p.Gln470Ter |