Linked Data
ClinVar Variation Id:
935737
ClinVar RCV Id:
RCV001204390
dbSNP Id:
rs1412412264
ExAC:
2:47301045 A / G
gnomAD v2:
2-47301045-A-G
gnomAD v3:
2-47073906-A-G
gnomAD v4:
2-47073906-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073906A>G , CM000664.2:g.47073906A>G | GRCh38 |
| NC_000002.11:g.47301045A>G , CM000664.1:g.47301045A>G | GRCh37 |
| NC_000002.10:g.47154549A>G | NCBI36 |
| NG_034143.1:g.162778A>G | |
| NG_034143.2:g.162778A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4393A>G (TTC7A) | ||
| ENST00000698503.1:n.2566A>G (TTC7A) | ||
| ENST00000319190.11:c.2560A>G (TTC7A) MANE Select | ENSP00000316699.5:p.Ile854Val | |
| ENST00000651101.1:n.1158A>G (TTC7A) | ||
| ENST00000651415.1:n.1351A>G (TTC7A) | ||
| ENST00000652236.1:n.1261A>G (TTC7A) | ||
| ENST00000652568.1:n.1233A>G (TTC7A) | ||
| ENST00000319190.9:c.2560A>G (TTC7A) | ENSP00000316699.5:p.Ile854Val | |
| ENST00000394850.6:c.2632A>G (TTC7A) | ENSP00000378320.2:p.Ile878Val | |
| ENST00000409245.5:c.2458A>G (TTC7A) | ENSP00000386307.1:p.Ile820Val | |
| ENST00000409825.5:c.2508A>G (TTC7A) | ||
| ENST00000422269.1:c.787-7769T>C | ||
| ENST00000441914.5:c.2401A>G (TTC7A) | ||
| ENST00000464527.2:n.399-7769T>C (STPG4) | ||
| ENST00000482548.1:n.402-5350T>C (STPG4) | ||
| ENST00000484061.5:n.1667A>G (TTC7A) | ||
| ENST00000491786.5:n.1964A>G (TTC7A) | ||
| ENST00000496939.1:n.416-26987T>C (STPG4) | ||
| NM_001288951.1:c.2632A>G (TTC7A) | NP_001275880.1:p.Ile878Val | |
| NM_001288953.1:c.2458A>G (TTC7A) | NP_001275882.1:p.Ile820Val | |
| NM_001288955.1:c.1498A>G (TTC7A) | NP_001275884.1:p.Ile500Val | |
| NM_020458.3:c.2560A>G (TTC7A) | NP_065191.2:p.Ile854Val | |
| XM_005264439.2:c.2203A>G (TTC7A) | XP_005264496.1:p.Ile735Val | |
| XM_011532998.1:c.2203A>G (TTC7A) | XP_011531300.1:p.Ile735Val | |
| XM_011533000.1:c.1780A>G (TTC7A) | XP_011531302.1:p.Ile594Val | |
| XM_011533001.1:c.1513A>G (TTC7A) | XP_011531303.1:p.Ile505Val | |
| XM_005264439.4:c.2203A>G (TTC7A) | XP_005264496.1:p.Ile735Val | |
| XM_011532998.3:c.2203A>G (TTC7A) | XP_011531300.1:p.Ile735Val | |
| XM_011533000.3:c.1780A>G (TTC7A) | XP_011531302.1:p.Ile594Val | |
| XM_011533001.3:c.1513A>G (TTC7A) | XP_011531303.1:p.Ile505Val | |
| XM_017004524.1:c.2443A>G (TTC7A) | XP_016860013.1:p.Ile815Val | |
| XM_017004525.1:c.2392A>G (TTC7A) | XP_016860014.1:p.Ile798Val | |
| XM_017004526.1:c.2311A>G (TTC7A) | XP_016860015.1:p.Ile771Val | |
| XM_024453013.1:c.1525A>G (TTC7A) | XP_024308781.1:p.Ile509Val | |
| NM_020458.4:c.2560A>G (TTC7A) MANE Select | NP_065191.2:p.Ile854Val | |
| NM_001288951.2:c.2632A>G (TTC7A) | NP_001275880.1:p.Ile878Val | |
| NM_001288953.2:c.2458A>G (TTC7A) | NP_001275882.1:p.Ile820Val | |
| NM_001288955.2:c.1498A>G (TTC7A) | NP_001275884.1:p.Ile500Val |