Linked Data
ClinVar Variation Id:
252575
dbSNP Id:
rs142609245
ExAC:
2:201943669 T / C
gnomAD v2:
2-201943669-T-C
gnomAD v3:
2-201078946-T-C
gnomAD v4:
2-201078946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201078946T>C , CM000664.2:g.201078946T>C | GRCh38 |
| NC_000002.11:g.201943669T>C , CM000664.1:g.201943669T>C | GRCh37 |
| NC_000002.10:g.201651914T>C | NCBI36 |
| NG_032156.1:g.12208T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450023.6:c.64T>C | ENSP00000401834.2:p.Trp22Arg | |
| ENST00000682325.1:c.64T>C | ENSP00000507925.1:p.Trp22Arg | |
| ENST00000684175.1:c.64T>C | ENSP00000508132.1:p.Trp22Arg | |
| ENST00000684420.1:c.64T>C | ENSP00000508208.1:p.Trp22Arg | |
| ENST00000237889.9:c.64T>C MANE Select | ENSP00000237889.4:p.Trp22Arg | |
| ENST00000237889.8:c.64T>C | ENSP00000237889.4:p.Trp22Arg | |
| ENST00000433898.5:c.64T>C | ENSP00000410600.1:p.Trp22Arg | |
| ENST00000450023.5:c.64T>C | ENSP00000401834.1:p.Trp22Arg | |
| ENST00000454214.1:c.64T>C | ENSP00000407336.1:p.Trp22Arg | |
| NM_001257102.1:c.64T>C | NP_001244031.1:p.Trp22Arg | |
| NM_002491.2:c.64T>C | NP_002482.1:p.Trp22Arg | |
| XM_011511230.1:c.64T>C | XP_011509532.1:p.Trp22Arg | |
| XM_011511230.3:c.64T>C | XP_011509532.1:p.Trp22Arg | |
| XM_017004186.2:c.64T>C | XP_016859675.1:p.Trp22Arg | |
| NM_002491.3:c.64T>C MANE Select | NP_002482.1:p.Trp22Arg | |
| NM_001257102.2:c.64T>C | NP_001244031.1:p.Trp22Arg |