HGVS | Genome Assembly |
---|---|
NC_000004.12:g.47406716C>A , CM000666.2:g.47406716C>A | GRCh38 |
NC_000004.11:g.47408733C>A , CM000666.1:g.47408733C>A | GRCh37 |
NC_000004.10:g.47103490C>A | NCBI36 |
NG_051831.1:g.380439C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295454.8:c.870C>A MANE Select | ENSP00000295454.3:p.Ser290Arg | |
ENST00000295454.7:c.870C>A | ENSP00000295454.3:p.Ser290Arg | |
NM_000812.3:c.870C>A | NP_000803.2:p.Ser290Arg | |
XM_011513678.1:c.849C>A | XP_011511980.1:p.Ser283Arg | |
XM_017007985.1:c.219C>A | XP_016863474.1:p.Ser73Arg | |
XM_024453976.1:c.771C>A | XP_024309744.1:p.Ser257Arg | |
XM_024453977.1:c.771C>A | XP_024309745.1:p.Ser257Arg | |
XM_024453978.1:c.771C>A | XP_024309746.1:p.Ser257Arg | |
NM_000812.4:c.870C>A MANE Select | NP_000803.2:p.Ser290Arg |