Linked Data
ClinVar Variation Id:
214271
dbSNP Id:
rs147700538
gnomAD v2:
1-245005536-T-G
gnomAD v3:
1-244842234-T-G
gnomAD v4:
1-244842234-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244842234T>G , CM000663.2:g.244842234T>G | GRCh38 |
| NC_000001.10:g.245005536T>G , CM000663.1:g.245005536T>G | GRCh37 |
| NC_000001.9:g.243072159T>G | NCBI36 |
| NG_042825.1:g.11929T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366527.4:n.11256A>C (HNRNPU) | ||
| ENST00000411948.7:c.197T>G (COX20) MANE Select | ENSP00000406327.2:p.Phe66Cys | |
| ENST00000475997.6:c.3694A>C (HNRNPU) | ENSP00000482621.2:n.3694A>C | |
| ENST00000649899.1:n.11537A>C (HNRNPU) | ||
| ENST00000366528.3:c.233T>G (COX20) | ENSP00000355486.3:p.Phe78Cys | |
| ENST00000391839.6:n.141T>G (COX20) | ||
| ENST00000411948.6:c.197T>G (COX20) | ENSP00000406327.2:p.Phe66Cys | |
| ENST00000464757.1:n.2352T>G (COX20) | ||
| ENST00000498262.1:n.249T>G (COX20) | ||
| NM_001312871.1:c.197T>G (COX20) | NP_001299800.1:p.Phe66Cys | |
| NM_001312872.1:c.233T>G (COX20) | NP_001299801.1:p.Phe78Cys | |
| NM_001312873.1:c.62T>G (COX20) | NP_001299802.1:p.Phe21Cys | |
| NM_001312874.1:c.*7T>G (COX20) | NP_001299803.1:n.*7T>G | |
| NM_198076.4:c.197T>G (COX20) | NP_932342.1:p.Phe66Cys | |
| NM_198076.5:c.197T>G (COX20) | NP_932342.1:p.Phe66Cys | |
| NR_132419.1:n.321T>G (COX20) | ||
| NR_132420.1:n.416T>G (COX20) | ||
| NR_132421.1:n.297T>G (COX20) | ||
| NM_198076.6:c.197T>G (COX20) MANE Select | NP_932342.1:p.Phe66Cys |