Linked Data
dbSNP Id:
rs549093097
gnomAD v2:
2-47301195-C-T
gnomAD v3:
2-47074056-C-T
gnomAD v4:
2-47074056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47074056C>T , CM000664.2:g.47074056C>T | GRCh38 |
| NC_000002.11:g.47301195C>T , CM000664.1:g.47301195C>T | GRCh37 |
| NC_000002.10:g.47154699C>T | NCBI36 |
| NG_034143.1:g.162928C>T | |
| NG_034143.2:g.162928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4543C>T (TTC7A) | ||
| ENST00000698503.1:n.2716C>T (TTC7A) | ||
| ENST00000319190.11:c.*133C>T (TTC7A) MANE Select | ENSP00000316699.5:n.*133C>T | |
| ENST00000651101.1:n.1308C>T (TTC7A) | ||
| ENST00000651415.1:n.1501C>T (TTC7A) | ||
| ENST00000652236.1:n.1411C>T (TTC7A) | ||
| ENST00000652568.1:n.1383C>T (TTC7A) | ||
| ENST00000319190.9:c.*133C>T (TTC7A) | ENSP00000316699.5:n.*133C>T | |
| ENST00000394850.6:c.*133C>T (TTC7A) | ENSP00000378320.2:n.*133C>T | |
| ENST00000409825.5:c.2658C>T (TTC7A) | ||
| ENST00000422269.1:c.787-7919G>A | ||
| ENST00000464527.2:n.399-7919G>A (STPG4) | ||
| ENST00000482548.1:n.402-5500G>A (STPG4) | ||
| ENST00000484061.5:n.1817C>T (TTC7A) | ||
| ENST00000491786.5:n.2114C>T (TTC7A) | ||
| ENST00000496939.1:n.416-27137G>A (STPG4) | ||
| NM_001288951.1:c.*133C>T (TTC7A) | NP_001275880.1:n.*133C>T | |
| NM_001288953.1:c.*133C>T (TTC7A) | NP_001275882.1:n.*133C>T | |
| NM_001288955.1:c.*133C>T (TTC7A) | NP_001275884.1:n.*133C>T | |
| NM_020458.3:c.*133C>T (TTC7A) | NP_065191.2:n.*133C>T | |
| XM_005264439.2:c.*133C>T (TTC7A) | XP_005264496.1:n.*133C>T | |
| XM_011532998.1:c.*133C>T (TTC7A) | XP_011531300.1:n.*133C>T | |
| XM_011533000.1:c.*133C>T (TTC7A) | XP_011531302.1:n.*133C>T | |
| XM_011533001.1:c.*133C>T (TTC7A) | XP_011531303.1:n.*133C>T | |
| XM_005264439.4:c.*133C>T (TTC7A) | XP_005264496.1:n.*133C>T | |
| XM_011532998.3:c.*133C>T (TTC7A) | XP_011531300.1:n.*133C>T | |
| XM_011533000.3:c.*133C>T (TTC7A) | XP_011531302.1:n.*133C>T | |
| XM_011533001.3:c.*133C>T (TTC7A) | XP_011531303.1:n.*133C>T | |
| XM_017004524.1:c.*133C>T (TTC7A) | XP_016860013.1:n.*133C>T | |
| XM_017004525.1:c.*133C>T (TTC7A) | XP_016860014.1:n.*133C>T | |
| XM_017004526.1:c.*133C>T (TTC7A) | XP_016860015.1:n.*133C>T | |
| XM_024453013.1:c.*133C>T (TTC7A) | XP_024308781.1:n.*133C>T | |
| NM_020458.4:c.*133C>T (TTC7A) MANE Select | NP_065191.2:n.*133C>T | |
| NM_001288951.2:c.*133C>T (TTC7A) | NP_001275880.1:n.*133C>T | |
| NM_001288953.2:c.*133C>T (TTC7A) | NP_001275882.1:n.*133C>T | |
| NM_001288955.2:c.*133C>T (TTC7A) | NP_001275884.1:n.*133C>T |