HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670467T>C , CM000666.2:g.68670467T>C | GRCh38 |
NC_000004.11:g.69536185T>C , CM000666.1:g.69536185T>C | GRCh37 |
NC_000004.10:g.69218780T>C | NCBI36 |
NG_052676.1:g.5310A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.152A>G MANE Select | ENSP00000341045.5:p.His51Arg | |
ENST00000338206.5:c.152A>G | ENSP00000341045.5:p.His51Arg | |
ENST00000616841.4:c.152A>G | ENSP00000482004.1:p.His51Arg | |
NM_001076.3:c.152A>G | NP_001067.2:p.His51Arg | |
NM_001076.4:c.152A>G MANE Select | NP_001067.2:p.His51Arg |