Linked Data
ClinVar Variation Id:
1157182
ClinVar RCV Id:
RCV001500135
dbSNP Id:
rs780449127
ExAC:
2:47301035 C / T
gnomAD v2:
2-47301035-C-T
gnomAD v3:
2-47073896-C-T
gnomAD v4:
2-47073896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073896C>T , CM000664.2:g.47073896C>T | GRCh38 |
| NC_000002.11:g.47301035C>T , CM000664.1:g.47301035C>T | GRCh37 |
| NC_000002.10:g.47154539C>T | NCBI36 |
| NG_034143.1:g.162768C>T | |
| NG_034143.2:g.162768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4383C>T (TTC7A) | ||
| ENST00000698503.1:n.2556C>T (TTC7A) | ||
| ENST00000319190.11:c.2550C>T (TTC7A) MANE Select | ENSP00000316699.5:p.Pro850= | |
| ENST00000651101.1:n.1148C>T (TTC7A) | ||
| ENST00000651415.1:n.1341C>T (TTC7A) | ||
| ENST00000652236.1:n.1251C>T (TTC7A) | ||
| ENST00000652568.1:n.1223C>T (TTC7A) | ||
| ENST00000319190.9:c.2550C>T (TTC7A) | ENSP00000316699.5:p.Pro850= | |
| ENST00000394850.6:c.2622C>T (TTC7A) | ENSP00000378320.2:p.Pro874= | |
| ENST00000409245.5:c.2448C>T (TTC7A) | ENSP00000386307.1:p.Pro816= | |
| ENST00000409825.5:c.2498C>T (TTC7A) | ||
| ENST00000422269.1:c.787-7759G>A | ||
| ENST00000441914.5:c.2391C>T (TTC7A) | ||
| ENST00000464527.2:n.399-7759G>A (STPG4) | ||
| ENST00000482548.1:n.402-5340G>A (STPG4) | ||
| ENST00000484061.5:n.1657C>T (TTC7A) | ||
| ENST00000491786.5:n.1954C>T (TTC7A) | ||
| ENST00000496939.1:n.416-26977G>A (STPG4) | ||
| NM_001288951.1:c.2622C>T (TTC7A) | NP_001275880.1:p.Pro874= | |
| NM_001288953.1:c.2448C>T (TTC7A) | NP_001275882.1:p.Pro816= | |
| NM_001288955.1:c.1488C>T (TTC7A) | NP_001275884.1:p.Pro496= | |
| NM_020458.3:c.2550C>T (TTC7A) | NP_065191.2:p.Pro850= | |
| XM_005264439.2:c.2193C>T (TTC7A) | XP_005264496.1:p.Pro731= | |
| XM_011532998.1:c.2193C>T (TTC7A) | XP_011531300.1:p.Pro731= | |
| XM_011533000.1:c.1770C>T (TTC7A) | XP_011531302.1:p.Pro590= | |
| XM_011533001.1:c.1503C>T (TTC7A) | XP_011531303.1:p.Pro501= | |
| XM_005264439.4:c.2193C>T (TTC7A) | XP_005264496.1:p.Pro731= | |
| XM_011532998.3:c.2193C>T (TTC7A) | XP_011531300.1:p.Pro731= | |
| XM_011533000.3:c.1770C>T (TTC7A) | XP_011531302.1:p.Pro590= | |
| XM_011533001.3:c.1503C>T (TTC7A) | XP_011531303.1:p.Pro501= | |
| XM_017004524.1:c.2433C>T (TTC7A) | XP_016860013.1:p.Pro811= | |
| XM_017004525.1:c.2382C>T (TTC7A) | XP_016860014.1:p.Pro794= | |
| XM_017004526.1:c.2301C>T (TTC7A) | XP_016860015.1:p.Pro767= | |
| XM_024453013.1:c.1515C>T (TTC7A) | XP_024308781.1:p.Pro505= | |
| NM_020458.4:c.2550C>T (TTC7A) MANE Select | NP_065191.2:p.Pro850= | |
| NM_001288951.2:c.2622C>T (TTC7A) | NP_001275880.1:p.Pro874= | |
| NM_001288953.2:c.2448C>T (TTC7A) | NP_001275882.1:p.Pro816= | |
| NM_001288955.2:c.1488C>T (TTC7A) | NP_001275884.1:p.Pro496= |