Linked Data
ClinVar Variation Id:
262931
dbSNP Id:
rs9847278
ExAC:
3:191047532 A / G
gnomAD v2:
3-191047532-A-G
gnomAD v3:
3-191329743-A-G
gnomAD v4:
3-191329743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191329743A>G , CM000665.2:g.191329743A>G | GRCh38 |
| NC_000003.11:g.191047532A>G , CM000665.1:g.191047532A>G | GRCh37 |
| NC_000003.10:g.192530226A>G | NCBI36 |
| NG_008994.1:g.5659A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340524.10:c.-665+671T>C (UTS2B) MANE Select | ENSP00000340526.5:n.-665+671T>C | |
| ENST00000392455.9:c.49+20A>G (CCDC50) MANE Select | ENSP00000376249.4:n.49+20A>G | |
| ENST00000392456.4:c.49+20A>G (CCDC50) | ENSP00000376250.4:n.49+20A>G | |
| ENST00000340524.9:c.-665+671T>C (UTS2B) | ENSP00000340526.5:n.-665+671T>C | |
| ENST00000392455.7:c.49+20A>G (CCDC50) | ENSP00000376249.3:n.49+20A>G | |
| ENST00000392456.3:c.49+20A>G (CCDC50) | ENSP00000376250.3:n.49+20A>G | |
| ENST00000432514.5:c.-832+671T>C (UTS2B) | ENSP00000401028.1:n.-832+671T>C | |
| NM_174908.3:c.49+20A>G (CCDC50) | NP_777568.1:n.49+20A>G | |
| NM_178335.2:c.49+20A>G (CCDC50) | NP_848018.1:n.49+20A>G | |
| NM_198152.3:c.-665+671T>C (UTS2B) | NP_937795.2:n.-665+671T>C | |
| XM_011512460.1:c.49+20A>G (CCDC50) | XP_011510762.1:n.49+20A>G | |
| NM_178335.3:c.49+20A>G (CCDC50) MANE Select | NP_848018.1:n.49+20A>G | |
| NM_174908.4:c.49+20A>G (CCDC50) | NP_777568.1:n.49+20A>G | |
| NM_198152.4:c.-665+671T>C (UTS2B) | NP_937795.2:n.-665+671T>C | |
| NM_198152.5:c.-665+671T>C (UTS2B) MANE Select | NP_937795.2:n.-665+671T>C |