Linked Data
dbSNP Id:
rs756818968
ExAC:
2:47300874 T / C
gnomAD v2:
2-47300874-T-C
gnomAD v3:
2-47073735-T-C
gnomAD v4:
2-47073735-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073735T>C , CM000664.2:g.47073735T>C | GRCh38 |
| NC_000002.11:g.47300874T>C , CM000664.1:g.47300874T>C | GRCh37 |
| NC_000002.10:g.47154378T>C | NCBI36 |
| NG_034143.1:g.162607T>C | |
| NG_034143.2:g.162607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4222T>C (TTC7A) | ||
| ENST00000698503.1:n.2395T>C (TTC7A) | ||
| ENST00000698504.1:n.470T>C (TTC7A) | ||
| ENST00000319190.11:c.2389T>C (TTC7A) MANE Select | ENSP00000316699.5:p.Leu797= | |
| ENST00000651101.1:n.987T>C (TTC7A) | ||
| ENST00000651415.1:n.1180T>C (TTC7A) | ||
| ENST00000652236.1:n.1090T>C (TTC7A) | ||
| ENST00000652568.1:n.1062T>C (TTC7A) | ||
| ENST00000319190.9:c.2389T>C (TTC7A) | ENSP00000316699.5:p.Leu797= | |
| ENST00000394850.6:c.2461T>C (TTC7A) | ENSP00000378320.2:p.Leu821= | |
| ENST00000409245.5:c.2287T>C (TTC7A) | ENSP00000386307.1:p.Leu763= | |
| ENST00000409825.5:c.2337T>C (TTC7A) | ||
| ENST00000422269.1:c.787-7598A>G | ||
| ENST00000441914.5:c.2230T>C (TTC7A) | ||
| ENST00000464527.2:n.399-7598A>G (STPG4) | ||
| ENST00000482548.1:n.402-5179A>G (STPG4) | ||
| ENST00000484061.5:n.1496T>C (TTC7A) | ||
| ENST00000491786.5:n.1793T>C (TTC7A) | ||
| ENST00000496939.1:n.416-26816A>G (STPG4) | ||
| NM_001288951.1:c.2461T>C (TTC7A) | NP_001275880.1:p.Leu821= | |
| NM_001288953.1:c.2287T>C (TTC7A) | NP_001275882.1:p.Leu763= | |
| NM_001288955.1:c.1327T>C (TTC7A) | NP_001275884.1:p.Leu443= | |
| NM_020458.3:c.2389T>C (TTC7A) | NP_065191.2:p.Leu797= | |
| XM_005264439.2:c.2032T>C (TTC7A) | XP_005264496.1:p.Leu678= | |
| XM_011532998.1:c.2032T>C (TTC7A) | XP_011531300.1:p.Leu678= | |
| XM_011533000.1:c.1609T>C (TTC7A) | XP_011531302.1:p.Leu537= | |
| XM_011533001.1:c.1342T>C (TTC7A) | XP_011531303.1:p.Leu448= | |
| XM_005264439.4:c.2032T>C (TTC7A) | XP_005264496.1:p.Leu678= | |
| XM_011532998.3:c.2032T>C (TTC7A) | XP_011531300.1:p.Leu678= | |
| XM_011533000.3:c.1609T>C (TTC7A) | XP_011531302.1:p.Leu537= | |
| XM_011533001.3:c.1342T>C (TTC7A) | XP_011531303.1:p.Leu448= | |
| XM_017004524.1:c.2272T>C (TTC7A) | XP_016860013.1:p.Leu758= | |
| XM_017004525.1:c.2221T>C (TTC7A) | XP_016860014.1:p.Leu741= | |
| XM_017004526.1:c.2140T>C (TTC7A) | XP_016860015.1:p.Leu714= | |
| XM_024453013.1:c.1354T>C (TTC7A) | XP_024308781.1:p.Leu452= | |
| NM_020458.4:c.2389T>C (TTC7A) MANE Select | NP_065191.2:p.Leu797= | |
| NM_001288951.2:c.2461T>C (TTC7A) | NP_001275880.1:p.Leu821= | |
| NM_001288953.2:c.2287T>C (TTC7A) | NP_001275882.1:p.Leu763= | |
| NM_001288955.2:c.1327T>C (TTC7A) | NP_001275884.1:p.Leu443= |