Linked Data
ClinVar Variation Id:
242605
dbSNP Id:
rs149602485
ExAC:
2:47277182 T / C
gnomAD v2:
2-47277182-T-C
gnomAD v3:
2-47050043-T-C
gnomAD v4:
2-47050043-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47050043T>C , CM000664.2:g.47050043T>C | GRCh38 |
| NC_000002.11:g.47277182T>C , CM000664.1:g.47277182T>C | GRCh37 |
| NC_000002.10:g.47130686T>C | NCBI36 |
| NG_034143.1:g.138915T>C | |
| NG_034143.2:g.138915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3847T>C (TTC7A) | ||
| ENST00000698503.1:n.2020T>C (TTC7A) | ||
| ENST00000698504.1:n.283T>C (TTC7A) | ||
| ENST00000319190.11:c.2014T>C (TTC7A) MANE Select | ENSP00000316699.5:p.Ser672Pro | |
| ENST00000651101.1:n.751-10726T>C (TTC7A) | ||
| ENST00000651415.1:n.805T>C (TTC7A) | ||
| ENST00000652236.1:n.715T>C (TTC7A) | ||
| ENST00000652568.1:n.687T>C (TTC7A) | ||
| ENST00000319190.9:c.2014T>C (TTC7A) | ENSP00000316699.5:p.Ser672Pro | |
| ENST00000394850.6:c.2086T>C (TTC7A) | ENSP00000378320.2:p.Ser696Pro | |
| ENST00000409245.5:c.1912T>C (TTC7A) | ENSP00000386307.1:p.Ser638Pro | |
| ENST00000409825.5:c.1962T>C (TTC7A) | ||
| ENST00000441914.5:c.1855T>C (TTC7A) | ||
| ENST00000484061.5:n.1121T>C (TTC7A) | ||
| ENST00000484337.5:n.427T>C (TTC7A) | ||
| ENST00000491786.5:n.1418T>C (TTC7A) | ||
| ENST00000496939.1:n.416-3124A>G (STPG4) | ||
| ENST00000496991.3:n.212T>C (TTC7A) | ||
| NM_001288951.1:c.2086T>C (TTC7A) | NP_001275880.1:p.Ser696Pro | |
| NM_001288953.1:c.1912T>C (TTC7A) | NP_001275882.1:p.Ser638Pro | |
| NM_001288955.1:c.952T>C (TTC7A) | NP_001275884.1:p.Ser318Pro | |
| NM_020458.3:c.2014T>C (TTC7A) | NP_065191.2:p.Ser672Pro | |
| XM_005264439.2:c.1657T>C (TTC7A) | XP_005264496.1:p.Ser553Pro | |
| XM_011532998.1:c.1657T>C (TTC7A) | XP_011531300.1:p.Ser553Pro | |
| XM_011532999.1:c.2014T>C (TTC7A) | XP_011531301.1:p.Ser672Pro | |
| XM_011533000.1:c.1234T>C (TTC7A) | XP_011531302.1:p.Ser412Pro | |
| XM_011533001.1:c.967T>C (TTC7A) | XP_011531303.1:p.Ser323Pro | |
| XR_939696.1:n.2319T>C (TTC7A) | ||
| XM_005264439.4:c.1657T>C (TTC7A) | XP_005264496.1:p.Ser553Pro | |
| XM_011532998.3:c.1657T>C (TTC7A) | XP_011531300.1:p.Ser553Pro | |
| XM_011532999.2:c.2014T>C (TTC7A) | XP_011531301.1:p.Ser672Pro | |
| XM_011533000.3:c.1234T>C (TTC7A) | XP_011531302.1:p.Ser412Pro | |
| XM_011533001.3:c.967T>C (TTC7A) | XP_011531303.1:p.Ser323Pro | |
| XM_017004524.1:c.1897T>C (TTC7A) | XP_016860013.1:p.Ser633Pro | |
| XM_017004525.1:c.1846T>C (TTC7A) | XP_016860014.1:p.Ser616Pro | |
| XM_017004526.1:c.1765T>C (TTC7A) | XP_016860015.1:p.Ser589Pro | |
| XM_017004529.1:c.2014T>C (TTC7A) | XP_016860018.1:p.Ser672Pro | |
| XM_024453013.1:c.979T>C (TTC7A) | XP_024308781.1:p.Ser327Pro | |
| XR_001738853.2:n.2399T>C (TTC7A) | ||
| NM_020458.4:c.2014T>C (TTC7A) MANE Select | NP_065191.2:p.Ser672Pro | |
| NM_001288951.2:c.2086T>C (TTC7A) | NP_001275880.1:p.Ser696Pro | |
| NM_001288953.2:c.1912T>C (TTC7A) | NP_001275882.1:p.Ser638Pro | |
| NM_001288955.2:c.952T>C (TTC7A) | NP_001275884.1:p.Ser318Pro |