Linked Data
ClinVar Variation Id:
50609
dbSNP Id:
rs587776972
ExAC:
2:47300953 T / C
gnomAD v2:
2-47300953-T-C
gnomAD v3:
2-47073814-T-C
gnomAD v4:
2-47073814-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073814T>C , CM000664.2:g.47073814T>C | GRCh38 |
| NC_000002.11:g.47300953T>C , CM000664.1:g.47300953T>C | GRCh37 |
| NC_000002.10:g.47154457T>C | NCBI36 |
| NG_034143.1:g.162686T>C | |
| NG_034143.2:g.162686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4301T>C (TTC7A) | ||
| ENST00000698503.1:n.2474T>C (TTC7A) | ||
| ENST00000319190.11:c.2468T>C (TTC7A) MANE Select | ENSP00000316699.5:p.Leu823Pro | |
| ENST00000651101.1:n.1066T>C (TTC7A) | ||
| ENST00000651415.1:n.1259T>C (TTC7A) | ||
| ENST00000652236.1:n.1169T>C (TTC7A) | ||
| ENST00000652568.1:n.1141T>C (TTC7A) | ||
| ENST00000319190.9:c.2468T>C (TTC7A) | ENSP00000316699.5:p.Leu823Pro | |
| ENST00000394850.6:c.2540T>C (TTC7A) | ENSP00000378320.2:p.Leu847Pro | |
| ENST00000409245.5:c.2366T>C (TTC7A) | ENSP00000386307.1:p.Leu789Pro | |
| ENST00000409825.5:c.2416T>C (TTC7A) | ||
| ENST00000422269.1:c.787-7677A>G | ||
| ENST00000441914.5:c.2309T>C (TTC7A) | ||
| ENST00000464527.2:n.399-7677A>G (STPG4) | ||
| ENST00000482548.1:n.402-5258A>G (STPG4) | ||
| ENST00000484061.5:n.1575T>C (TTC7A) | ||
| ENST00000491786.5:n.1872T>C (TTC7A) | ||
| ENST00000496939.1:n.416-26895A>G (STPG4) | ||
| NM_001288951.1:c.2540T>C (TTC7A) | NP_001275880.1:p.Leu847Pro | |
| NM_001288953.1:c.2366T>C (TTC7A) | NP_001275882.1:p.Leu789Pro | |
| NM_001288955.1:c.1406T>C (TTC7A) | NP_001275884.1:p.Leu469Pro | |
| NM_020458.3:c.2468T>C (TTC7A) | NP_065191.2:p.Leu823Pro | |
| XM_005264439.2:c.2111T>C (TTC7A) | XP_005264496.1:p.Leu704Pro | |
| XM_011532998.1:c.2111T>C (TTC7A) | XP_011531300.1:p.Leu704Pro | |
| XM_011533000.1:c.1688T>C (TTC7A) | XP_011531302.1:p.Leu563Pro | |
| XM_011533001.1:c.1421T>C (TTC7A) | XP_011531303.1:p.Leu474Pro | |
| XM_005264439.4:c.2111T>C (TTC7A) | XP_005264496.1:p.Leu704Pro | |
| XM_011532998.3:c.2111T>C (TTC7A) | XP_011531300.1:p.Leu704Pro | |
| XM_011533000.3:c.1688T>C (TTC7A) | XP_011531302.1:p.Leu563Pro | |
| XM_011533001.3:c.1421T>C (TTC7A) | XP_011531303.1:p.Leu474Pro | |
| XM_017004524.1:c.2351T>C (TTC7A) | XP_016860013.1:p.Leu784Pro | |
| XM_017004525.1:c.2300T>C (TTC7A) | XP_016860014.1:p.Leu767Pro | |
| XM_017004526.1:c.2219T>C (TTC7A) | XP_016860015.1:p.Leu740Pro | |
| XM_024453013.1:c.1433T>C (TTC7A) | XP_024308781.1:p.Leu478Pro | |
| NM_020458.4:c.2468T>C (TTC7A) MANE Select | NP_065191.2:p.Leu823Pro | |
| NM_001288951.2:c.2540T>C (TTC7A) | NP_001275880.1:p.Leu847Pro | |
| NM_001288953.2:c.2366T>C (TTC7A) | NP_001275882.1:p.Leu789Pro | |
| NM_001288955.2:c.1406T>C (TTC7A) | NP_001275884.1:p.Leu469Pro |