HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118933112G>A , CM000670.2:g.118933112G>A | GRCh38 |
NC_000008.10:g.119945351G>A , CM000670.1:g.119945351G>A | GRCh37 |
NC_000008.9:g.120014532G>A | NCBI36 |
NG_012202.1:g.24033C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.219C>T MANE Select | ENSP00000297350.4:p.Ser73= | |
ENST00000297350.8:c.219C>T | ENSP00000297350.4:p.Ser73= | |
ENST00000517352.1:c.219C>T | ENSP00000427924.1:p.Ser73= | |
NM_002546.3:c.219C>T | NP_002537.3:p.Ser73= | |
NM_002546.4:c.219C>T MANE Select | NP_002537.3:p.Ser73= |