HGVS | Genome Assembly |
---|---|
NC_000007.14:g.28955810C>T , CM000669.2:g.28955810C>T | GRCh38 |
NC_000007.13:g.28995426C>T , CM000669.1:g.28995426C>T | GRCh37 |
NC_000007.12:g.28961951C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000539664.3:c.2237G>A MANE Select | ENSP00000479256.1:p.Arg746Gln | |
ENST00000539664.2:c.2237G>A | ENSP00000479256.1:p.Arg746Gln | |
NM_014817.3:c.2237G>A | NP_055632.2:p.Arg746Gln | |
NM_014817.4:c.2237G>A MANE Select | NP_055632.2:p.Arg746Gln |