Linked Data
dbSNP Id:
rs900028549
gnomAD v2:
2-47301185-G-A
gnomAD v3:
2-47074046-G-A
gnomAD v4:
2-47074046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47074046G>A , CM000664.2:g.47074046G>A | GRCh38 |
| NC_000002.11:g.47301185G>A , CM000664.1:g.47301185G>A | GRCh37 |
| NC_000002.10:g.47154689G>A | NCBI36 |
| NG_034143.1:g.162918G>A | |
| NG_034143.2:g.162918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4533G>A (TTC7A) | ||
| ENST00000698503.1:n.2706G>A (TTC7A) | ||
| ENST00000319190.11:c.*123G>A (TTC7A) MANE Select | ENSP00000316699.5:n.*123G>A | |
| ENST00000651101.1:n.1298G>A (TTC7A) | ||
| ENST00000651415.1:n.1491G>A (TTC7A) | ||
| ENST00000652236.1:n.1401G>A (TTC7A) | ||
| ENST00000652568.1:n.1373G>A (TTC7A) | ||
| ENST00000319190.9:c.*123G>A (TTC7A) | ENSP00000316699.5:n.*123G>A | |
| ENST00000394850.6:c.*123G>A (TTC7A) | ENSP00000378320.2:n.*123G>A | |
| ENST00000409245.5:c.*123G>A (TTC7A) | ENSP00000386307.1:n.*123G>A | |
| ENST00000409825.5:c.2648G>A (TTC7A) | ||
| ENST00000422269.1:c.787-7909C>T | ||
| ENST00000464527.2:n.399-7909C>T (STPG4) | ||
| ENST00000482548.1:n.402-5490C>T (STPG4) | ||
| ENST00000484061.5:n.1807G>A (TTC7A) | ||
| ENST00000491786.5:n.2104G>A (TTC7A) | ||
| ENST00000496939.1:n.416-27127C>T (STPG4) | ||
| NM_001288951.1:c.*123G>A (TTC7A) | NP_001275880.1:n.*123G>A | |
| NM_001288953.1:c.*123G>A (TTC7A) | NP_001275882.1:n.*123G>A | |
| NM_001288955.1:c.*123G>A (TTC7A) | NP_001275884.1:n.*123G>A | |
| NM_020458.3:c.*123G>A (TTC7A) | NP_065191.2:n.*123G>A | |
| XM_005264439.2:c.*123G>A (TTC7A) | XP_005264496.1:n.*123G>A | |
| XM_011532998.1:c.*123G>A (TTC7A) | XP_011531300.1:n.*123G>A | |
| XM_011533000.1:c.*123G>A (TTC7A) | XP_011531302.1:n.*123G>A | |
| XM_011533001.1:c.*123G>A (TTC7A) | XP_011531303.1:n.*123G>A | |
| XM_005264439.4:c.*123G>A (TTC7A) | XP_005264496.1:n.*123G>A | |
| XM_011532998.3:c.*123G>A (TTC7A) | XP_011531300.1:n.*123G>A | |
| XM_011533000.3:c.*123G>A (TTC7A) | XP_011531302.1:n.*123G>A | |
| XM_011533001.3:c.*123G>A (TTC7A) | XP_011531303.1:n.*123G>A | |
| XM_017004524.1:c.*123G>A (TTC7A) | XP_016860013.1:n.*123G>A | |
| XM_017004525.1:c.*123G>A (TTC7A) | XP_016860014.1:n.*123G>A | |
| XM_017004526.1:c.*123G>A (TTC7A) | XP_016860015.1:n.*123G>A | |
| XM_024453013.1:c.*123G>A (TTC7A) | XP_024308781.1:n.*123G>A | |
| NM_020458.4:c.*123G>A (TTC7A) MANE Select | NP_065191.2:n.*123G>A | |
| NM_001288951.2:c.*123G>A (TTC7A) | NP_001275880.1:n.*123G>A | |
| NM_001288953.2:c.*123G>A (TTC7A) | NP_001275882.1:n.*123G>A | |
| NM_001288955.2:c.*123G>A (TTC7A) | NP_001275884.1:n.*123G>A |