Linked Data
ClinVar Variation Id:
2189338
ClinVar RCV Id:
RCV002636773
dbSNP Id:
rs1195221566
gnomAD v2:
2-47300982-G-A
gnomAD v3:
2-47073843-G-A
gnomAD v4:
2-47073843-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073843G>A , CM000664.2:g.47073843G>A | GRCh38 |
| NC_000002.11:g.47300982G>A , CM000664.1:g.47300982G>A | GRCh37 |
| NC_000002.10:g.47154486G>A | NCBI36 |
| NG_034143.1:g.162715G>A | |
| NG_034143.2:g.162715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4330G>A (TTC7A) | ||
| ENST00000698503.1:n.2503G>A (TTC7A) | ||
| ENST00000319190.11:c.2497G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Val833Ile | |
| ENST00000651101.1:n.1095G>A (TTC7A) | ||
| ENST00000651415.1:n.1288G>A (TTC7A) | ||
| ENST00000652236.1:n.1198G>A (TTC7A) | ||
| ENST00000652568.1:n.1170G>A (TTC7A) | ||
| ENST00000319190.9:c.2497G>A (TTC7A) | ENSP00000316699.5:p.Val833Ile | |
| ENST00000394850.6:c.2569G>A (TTC7A) | ENSP00000378320.2:p.Val857Ile | |
| ENST00000409245.5:c.2395G>A (TTC7A) | ENSP00000386307.1:p.Val799Ile | |
| ENST00000409825.5:c.2445G>A (TTC7A) | ||
| ENST00000422269.1:c.787-7706C>T | ||
| ENST00000441914.5:c.2338G>A (TTC7A) | ||
| ENST00000464527.2:n.399-7706C>T (STPG4) | ||
| ENST00000482548.1:n.402-5287C>T (STPG4) | ||
| ENST00000484061.5:n.1604G>A (TTC7A) | ||
| ENST00000491786.5:n.1901G>A (TTC7A) | ||
| ENST00000496939.1:n.416-26924C>T (STPG4) | ||
| NM_001288951.1:c.2569G>A (TTC7A) | NP_001275880.1:p.Val857Ile | |
| NM_001288953.1:c.2395G>A (TTC7A) | NP_001275882.1:p.Val799Ile | |
| NM_001288955.1:c.1435G>A (TTC7A) | NP_001275884.1:p.Val479Ile | |
| NM_020458.3:c.2497G>A (TTC7A) | NP_065191.2:p.Val833Ile | |
| XM_005264439.2:c.2140G>A (TTC7A) | XP_005264496.1:p.Val714Ile | |
| XM_011532998.1:c.2140G>A (TTC7A) | XP_011531300.1:p.Val714Ile | |
| XM_011533000.1:c.1717G>A (TTC7A) | XP_011531302.1:p.Val573Ile | |
| XM_011533001.1:c.1450G>A (TTC7A) | XP_011531303.1:p.Val484Ile | |
| XM_005264439.4:c.2140G>A (TTC7A) | XP_005264496.1:p.Val714Ile | |
| XM_011532998.3:c.2140G>A (TTC7A) | XP_011531300.1:p.Val714Ile | |
| XM_011533000.3:c.1717G>A (TTC7A) | XP_011531302.1:p.Val573Ile | |
| XM_011533001.3:c.1450G>A (TTC7A) | XP_011531303.1:p.Val484Ile | |
| XM_017004524.1:c.2380G>A (TTC7A) | XP_016860013.1:p.Val794Ile | |
| XM_017004525.1:c.2329G>A (TTC7A) | XP_016860014.1:p.Val777Ile | |
| XM_017004526.1:c.2248G>A (TTC7A) | XP_016860015.1:p.Val750Ile | |
| XM_024453013.1:c.1462G>A (TTC7A) | XP_024308781.1:p.Val488Ile | |
| NM_020458.4:c.2497G>A (TTC7A) MANE Select | NP_065191.2:p.Val833Ile | |
| NM_001288951.2:c.2569G>A (TTC7A) | NP_001275880.1:p.Val857Ile | |
| NM_001288953.2:c.2395G>A (TTC7A) | NP_001275882.1:p.Val799Ile | |
| NM_001288955.2:c.1435G>A (TTC7A) | NP_001275884.1:p.Val479Ile |