Linked Data
ClinVar Variation Id:
190394
ClinVar RCV Id:
RCV000170532
dbSNP Id:
rs876657393
gnomAD v3:
2-47073840-G-A
gnomAD v4:
2-47073840-G-A
PubMed:
PMID:24417819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073840G>A , CM000664.2:g.47073840G>A | GRCh38 |
| NC_000002.11:g.47300979G>A , CM000664.1:g.47300979G>A | GRCh37 |
| NC_000002.10:g.47154483G>A | NCBI36 |
| NG_034143.1:g.162712G>A | |
| NG_034143.2:g.162712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4327G>A (TTC7A) | ||
| ENST00000698503.1:n.2500G>A (TTC7A) | ||
| ENST00000319190.11:c.2494G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Ala832Thr | |
| ENST00000651101.1:n.1092G>A (TTC7A) | ||
| ENST00000651415.1:n.1285G>A (TTC7A) | ||
| ENST00000652236.1:n.1195G>A (TTC7A) | ||
| ENST00000652568.1:n.1167G>A (TTC7A) | ||
| ENST00000319190.9:c.2494G>A (TTC7A) | ENSP00000316699.5:p.Ala832Thr | |
| ENST00000394850.6:c.2566G>A (TTC7A) | ENSP00000378320.2:p.Ala856Thr | |
| ENST00000409245.5:c.2392G>A (TTC7A) | ENSP00000386307.1:p.Ala798Thr | |
| ENST00000409825.5:c.2442G>A (TTC7A) | ||
| ENST00000422269.1:c.787-7703C>T | ||
| ENST00000441914.5:c.2335G>A (TTC7A) | ||
| ENST00000464527.2:n.399-7703C>T (STPG4) | ||
| ENST00000482548.1:n.402-5284C>T (STPG4) | ||
| ENST00000484061.5:n.1601G>A (TTC7A) | ||
| ENST00000491786.5:n.1898G>A (TTC7A) | ||
| ENST00000496939.1:n.416-26921C>T (STPG4) | ||
| NM_001288951.1:c.2566G>A (TTC7A) | NP_001275880.1:p.Ala856Thr | |
| NM_001288953.1:c.2392G>A (TTC7A) | NP_001275882.1:p.Ala798Thr | |
| NM_001288955.1:c.1432G>A (TTC7A) | NP_001275884.1:p.Ala478Thr | |
| NM_020458.3:c.2494G>A (TTC7A) | NP_065191.2:p.Ala832Thr | |
| XM_005264439.2:c.2137G>A (TTC7A) | XP_005264496.1:p.Ala713Thr | |
| XM_011532998.1:c.2137G>A (TTC7A) | XP_011531300.1:p.Ala713Thr | |
| XM_011533000.1:c.1714G>A (TTC7A) | XP_011531302.1:p.Ala572Thr | |
| XM_011533001.1:c.1447G>A (TTC7A) | XP_011531303.1:p.Ala483Thr | |
| XM_005264439.4:c.2137G>A (TTC7A) | XP_005264496.1:p.Ala713Thr | |
| XM_011532998.3:c.2137G>A (TTC7A) | XP_011531300.1:p.Ala713Thr | |
| XM_011533000.3:c.1714G>A (TTC7A) | XP_011531302.1:p.Ala572Thr | |
| XM_011533001.3:c.1447G>A (TTC7A) | XP_011531303.1:p.Ala483Thr | |
| XM_017004524.1:c.2377G>A (TTC7A) | XP_016860013.1:p.Ala793Thr | |
| XM_017004525.1:c.2326G>A (TTC7A) | XP_016860014.1:p.Ala776Thr | |
| XM_017004526.1:c.2245G>A (TTC7A) | XP_016860015.1:p.Ala749Thr | |
| XM_024453013.1:c.1459G>A (TTC7A) | XP_024308781.1:p.Ala487Thr | |
| NM_020458.4:c.2494G>A (TTC7A) MANE Select | NP_065191.2:p.Ala832Thr | |
| NM_001288951.2:c.2566G>A (TTC7A) | NP_001275880.1:p.Ala856Thr | |
| NM_001288953.2:c.2392G>A (TTC7A) | NP_001275882.1:p.Ala798Thr | |
| NM_001288955.2:c.1432G>A (TTC7A) | NP_001275884.1:p.Ala478Thr |