Linked Data
dbSNP Id:
rs141340223
ExAC:
20:61981768 T / C
gnomAD v2:
20-61981768-T-C
gnomAD v4:
20-63350416-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350416T>C , CM000682.2:g.63350416T>C | GRCh38 |
| NC_000020.10:g.61981768T>C , CM000682.1:g.61981768T>C | GRCh37 |
| NC_000020.9:g.61452212T>C | NCBI36 |
| NG_011931.1:g.15928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.995A>G MANE Select | ENSP00000359285.4:p.His332Arg | |
| ENST00000370263.8:c.995A>G | ENSP00000359285.4:p.His332Arg | |
| ENST00000463705.5:n.1643A>G | ||
| ENST00000467563.3:n.1065A>G | ||
| ENST00000498043.6:c.1019A>G | ||
| ENST00000615287.4:c.782A>G | ENSP00000483388.1:p.His261Arg | |
| ENST00000627000.1:c.*684A>G | ENSP00000486914.1:n.*684A>G | |
| ENST00000630240.1:n.716A>G | ||
| NM_000744.6:c.995A>G | NP_000735.1:p.His332Arg | |
| NM_001256573.1:c.467A>G | NP_001243502.1:p.His156Arg | |
| NR_046317.1:n.1251A>G | ||
| XM_011528524.1:c.782A>G | XP_011526826.1:p.His261Arg | |
| XM_017027625.2:c.467A>G | XP_016883114.1:p.His156Arg | |
| XM_024451822.1:c.467A>G | XP_024307590.1:p.His156Arg | |
| NM_001256573.2:c.467A>G | NP_001243502.1:p.His156Arg | |
| NR_046317.2:n.1204A>G | ||
| NM_000744.7:c.995A>G MANE Select | NP_000735.1:p.His332Arg |