Linked Data
dbSNP Id:
rs758857620
ExAC:
20:3063723 G / A
gnomAD v2:
20-3063723-G-A
gnomAD v4:
20-3083077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083077G>A , CM000682.2:g.3083077G>A | GRCh38 |
| NC_000020.10:g.3063723G>A , CM000682.1:g.3063723G>A | GRCh37 |
| NC_000020.9:g.3011723G>A | NCBI36 |
| NG_008663.1:g.6648C>T , LRG_715:g.6648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.222C>T MANE Select | ENSP00000369647.3:p.Arg74= | |
| NM_000490.4:c.222C>T , LRG_715t1:c.222C>T | NP_000481.2:p.Arg74= | |
| XM_011529267.1:c.222C>T | XP_011527569.1:p.Arg74= | |
| XM_011529267.2:c.222C>T | XP_011527569.1:p.Arg74= | |
| NM_000490.5:c.222C>T MANE Select | NP_000481.2:p.Arg74= |