HGVS | Genome Assembly |
---|---|
NC_000010.11:g.91630423T>C , CM000672.2:g.91630423T>C | GRCh38 |
NC_000010.10:g.93390180T>C , CM000672.1:g.93390180T>C | GRCh37 |
NC_000010.9:g.93380160T>C | NCBI36 |
NG_051567.1:g.7679A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000238994.6:c.458A>G MANE Select | ENSP00000238994.5:p.Gln153Arg | |
ENST00000238994.5:c.458A>G | ENSP00000238994.5:p.Gln153Arg | |
NM_005398.5:c.458A>G | NP_005389.1:p.Gln153Arg | |
NM_005398.6:c.458A>G | NP_005389.1:p.Gln153Arg | |
NM_005398.7:c.458A>G MANE Select | NP_005389.1:p.Gln153Arg |