HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16993110C>A , CM000670.2:g.16993110C>A | GRCh38 |
NC_000008.10:g.16850619C>A , CM000670.1:g.16850619C>A | GRCh37 |
NC_000008.9:g.16894990C>A | NCBI36 |
NG_015978.1:g.14056G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.598G>T MANE Select | ENSP00000180166.5:p.Val200Phe | |
ENST00000180166.5:c.598G>T | ENSP00000180166.5:p.Val200Phe | |
ENST00000519941.1:c.302G>T | ||
NM_019851.2:c.598G>T | NP_062825.1:p.Val200Phe | |
NM_019851.3:c.598G>T MANE Select | NP_062825.1:p.Val200Phe |