Linked Data
dbSNP Id:
rs780157261
ExAC:
2:47300799 A / G
gnomAD v2:
2-47300799-A-G
gnomAD v3:
2-47073660-A-G
gnomAD v4:
2-47073660-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073660A>G , CM000664.2:g.47073660A>G | GRCh38 |
| NC_000002.11:g.47300799A>G , CM000664.1:g.47300799A>G | GRCh37 |
| NC_000002.10:g.47154303A>G | NCBI36 |
| NG_034143.1:g.162532A>G | |
| NG_034143.2:g.162532A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4189-42A>G (TTC7A) | ||
| ENST00000698503.1:n.2362-42A>G (TTC7A) | ||
| ENST00000698504.1:n.437-42A>G (TTC7A) | ||
| ENST00000319190.11:c.2356-42A>G (TTC7A) MANE Select | ENSP00000316699.5:n.2356-42A>G | |
| ENST00000651101.1:n.954-42A>G (TTC7A) | ||
| ENST00000651415.1:n.1147-42A>G (TTC7A) | ||
| ENST00000652236.1:n.1057-42A>G (TTC7A) | ||
| ENST00000652568.1:n.1029-42A>G (TTC7A) | ||
| ENST00000319190.9:c.2356-42A>G (TTC7A) | ENSP00000316699.5:n.2356-42A>G | |
| ENST00000394850.6:c.2428-42A>G (TTC7A) | ENSP00000378320.2:n.2428-42A>G | |
| ENST00000409245.5:c.2254-42A>G (TTC7A) | ENSP00000386307.1:n.2254-42A>G | |
| ENST00000409825.5:c.2304-42A>G (TTC7A) | ||
| ENST00000422269.1:c.787-7523T>C | ||
| ENST00000441914.5:c.2197-42A>G (TTC7A) | ||
| ENST00000464527.2:n.399-7523T>C (STPG4) | ||
| ENST00000482548.1:n.402-5104T>C (STPG4) | ||
| ENST00000484061.5:n.1463-42A>G (TTC7A) | ||
| ENST00000491786.5:n.1760-42A>G (TTC7A) | ||
| ENST00000496939.1:n.416-26741T>C (STPG4) | ||
| NM_001288951.1:c.2428-42A>G (TTC7A) | NP_001275880.1:n.2428-42A>G | |
| NM_001288953.1:c.2254-42A>G (TTC7A) | NP_001275882.1:n.2254-42A>G | |
| NM_001288955.1:c.1294-42A>G (TTC7A) | NP_001275884.1:n.1294-42A>G | |
| NM_020458.3:c.2356-42A>G (TTC7A) | NP_065191.2:n.2356-42A>G | |
| XM_005264439.2:c.1999-42A>G (TTC7A) | XP_005264496.1:n.1999-42A>G | |
| XM_011532998.1:c.1999-42A>G (TTC7A) | XP_011531300.1:n.1999-42A>G | |
| XM_011533000.1:c.1576-42A>G (TTC7A) | XP_011531302.1:n.1576-42A>G | |
| XM_011533001.1:c.1309-42A>G (TTC7A) | XP_011531303.1:n.1309-42A>G | |
| XM_005264439.4:c.1999-42A>G (TTC7A) | XP_005264496.1:n.1999-42A>G | |
| XM_011532998.3:c.1999-42A>G (TTC7A) | XP_011531300.1:n.1999-42A>G | |
| XM_011533000.3:c.1576-42A>G (TTC7A) | XP_011531302.1:n.1576-42A>G | |
| XM_011533001.3:c.1309-42A>G (TTC7A) | XP_011531303.1:n.1309-42A>G | |
| XM_017004524.1:c.2239-42A>G (TTC7A) | XP_016860013.1:n.2239-42A>G | |
| XM_017004525.1:c.2188-42A>G (TTC7A) | XP_016860014.1:n.2188-42A>G | |
| XM_017004526.1:c.2107-42A>G (TTC7A) | XP_016860015.1:n.2107-42A>G | |
| XM_024453013.1:c.1321-42A>G (TTC7A) | XP_024308781.1:n.1321-42A>G | |
| NM_020458.4:c.2356-42A>G (TTC7A) MANE Select | NP_065191.2:n.2356-42A>G | |
| NM_001288951.2:c.2428-42A>G (TTC7A) | NP_001275880.1:n.2428-42A>G | |
| NM_001288953.2:c.2254-42A>G (TTC7A) | NP_001275882.1:n.2254-42A>G | |
| NM_001288955.2:c.1294-42A>G (TTC7A) | NP_001275884.1:n.1294-42A>G |