HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104057165G>A , CM000672.2:g.104057165G>A | GRCh38 |
NC_000010.10:g.105816923G>A , CM000672.1:g.105816923G>A | GRCh37 |
NC_000010.9:g.105806913G>A | NCBI36 |
NG_007069.1:g.33716C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.1275C>T | ENSP00000358748.3:p.His425= | |
ENST00000648076.2:c.1275C>T MANE Select | ENSP00000497653.1:p.His425= | |
ENST00000650263.1:c.1227C>T | ENSP00000497850.1:p.His409= | |
ENST00000353479.9:c.1275C>T | ENSP00000340937.5:p.His425= | |
ENST00000369733.7:c.1275C>T | ENSP00000358748.3:p.His425= | |
NM_000494.3:c.1275C>T | NP_000485.3:p.His425= | |
NM_000494.4:c.1275C>T MANE Select | NP_000485.3:p.His425= |