Linked Data
ClinVar Variation Id:
242606
dbSNP Id:
rs139010200
ExAC:
2:47273468 A / G
gnomAD v2:
2-47273468-A-G
gnomAD v3:
2-47046329-A-G
gnomAD v4:
2-47046329-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47046329A>G , CM000664.2:g.47046329A>G | GRCh38 |
| NC_000002.11:g.47273468A>G , CM000664.1:g.47273468A>G | GRCh37 |
| NC_000002.10:g.47126972A>G | NCBI36 |
| NG_034143.1:g.135201A>G | |
| NG_034143.2:g.135201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3650A>G (TTC7A) | ||
| ENST00000698503.1:n.1823A>G (TTC7A) | ||
| ENST00000698504.1:n.86A>G (TTC7A) | ||
| ENST00000319190.11:c.1817A>G (TTC7A) MANE Select | ENSP00000316699.5:p.Lys606Arg | |
| ENST00000651101.1:n.751-14440A>G (TTC7A) | ||
| ENST00000651415.1:n.608A>G (TTC7A) | ||
| ENST00000652236.1:n.518A>G (TTC7A) | ||
| ENST00000652568.1:n.490A>G (TTC7A) | ||
| ENST00000319190.9:c.1817A>G (TTC7A) | ENSP00000316699.5:p.Lys606Arg | |
| ENST00000394850.6:c.1817A>G (TTC7A) | ENSP00000378320.2:p.Lys606Arg | |
| ENST00000409245.5:c.1715A>G (TTC7A) | ENSP00000386307.1:p.Lys572Arg | |
| ENST00000409825.5:c.1765A>G (TTC7A) | ||
| ENST00000440051.1:c.610-3620A>G (TTC7A) | ||
| ENST00000441914.5:c.1658A>G (TTC7A) | ||
| ENST00000461601.5:n.2128-3620A>G (TTC7A) | ||
| ENST00000484061.5:n.924A>G (TTC7A) | ||
| ENST00000484337.5:n.230A>G (TTC7A) | ||
| ENST00000491786.5:n.1221A>G (TTC7A) | ||
| ENST00000496939.1:n.518+488T>C (STPG4) | ||
| ENST00000496991.3:n.15A>G (TTC7A) | ||
| NM_001288951.1:c.1817A>G (TTC7A) | NP_001275880.1:p.Lys606Arg | |
| NM_001288953.1:c.1715A>G (TTC7A) | NP_001275882.1:p.Lys572Arg | |
| NM_001288955.1:c.755A>G (TTC7A) | NP_001275884.1:p.Lys252Arg | |
| NM_020458.3:c.1817A>G (TTC7A) | NP_065191.2:p.Lys606Arg | |
| XM_005264439.2:c.1460A>G (TTC7A) | XP_005264496.1:p.Lys487Arg | |
| XM_011532998.1:c.1460A>G (TTC7A) | XP_011531300.1:p.Lys487Arg | |
| XM_011532999.1:c.1817A>G (TTC7A) | XP_011531301.1:p.Lys606Arg | |
| XM_011533000.1:c.1037A>G (TTC7A) | XP_011531302.1:p.Lys346Arg | |
| XM_011533001.1:c.770A>G (TTC7A) | XP_011531303.1:p.Lys257Arg | |
| XR_939696.1:n.2122A>G (TTC7A) | ||
| XM_005264439.4:c.1460A>G (TTC7A) | XP_005264496.1:p.Lys487Arg | |
| XM_011532998.3:c.1460A>G (TTC7A) | XP_011531300.1:p.Lys487Arg | |
| XM_011532999.2:c.1817A>G (TTC7A) | XP_011531301.1:p.Lys606Arg | |
| XM_011533000.3:c.1037A>G (TTC7A) | XP_011531302.1:p.Lys346Arg | |
| XM_011533001.3:c.770A>G (TTC7A) | XP_011531303.1:p.Lys257Arg | |
| XM_017004524.1:c.1803-3620A>G (TTC7A) | XP_016860013.1:n.1803-3620A>G | |
| XM_017004525.1:c.1649A>G (TTC7A) | XP_016860014.1:p.Lys550Arg | |
| XM_017004526.1:c.1568A>G (TTC7A) | XP_016860015.1:p.Lys523Arg | |
| XM_017004529.1:c.1817A>G (TTC7A) | XP_016860018.1:p.Lys606Arg | |
| XM_024453013.1:c.782A>G (TTC7A) | XP_024308781.1:p.Lys261Arg | |
| XR_001738853.2:n.2202A>G (TTC7A) | ||
| XR_001738854.1:n.1996-3620A>G (TTC7A) | ||
| NM_020458.4:c.1817A>G (TTC7A) MANE Select | NP_065191.2:p.Lys606Arg | |
| NM_001288951.2:c.1817A>G (TTC7A) | NP_001275880.1:p.Lys606Arg | |
| NM_001288953.2:c.1715A>G (TTC7A) | NP_001275882.1:p.Lys572Arg | |
| NM_001288955.2:c.755A>G (TTC7A) | NP_001275884.1:p.Lys252Arg |