HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827429G= , CM000667.2:g.148827429G= | GRCh38 |
NC_000005.9:g.148206992G= , CM000667.1:g.148206992G= | GRCh37 |
NC_000005.8:g.148187185G= | NCBI36 |
NG_016421.1:g.5837G= | |
NG_016421.2:g.5837G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.598G= MANE Select | ENSP00000305372.4:p.Ala200= | |
ENST00000305988.5:c.598G= | ENSP00000305372.4:p.Ala200= | |
NM_000024.5:c.598G= | NP_000015.1:p.Ala200= | |
NM_000024.6:c.598G= MANE Select | NP_000015.2:p.Ala200= |