HGVS | Genome Assembly |
---|---|
NC_000004.12:g.47406890C>A , CM000666.2:g.47406890C>A | GRCh38 |
NC_000004.11:g.47408907C>A , CM000666.1:g.47408907C>A | GRCh37 |
NC_000004.10:g.47103664C>A | NCBI36 |
NG_051831.1:g.380613C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295454.8:c.1044C>A MANE Select | ENSP00000295454.3:p.Ala348= | |
ENST00000295454.7:c.1044C>A | ENSP00000295454.3:p.Ala348= | |
NM_000812.3:c.1044C>A | NP_000803.2:p.Ala348= | |
XM_011513678.1:c.1023C>A | XP_011511980.1:p.Ala341= | |
XM_017007985.1:c.393C>A | XP_016863474.1:p.Ala131= | |
XM_024453976.1:c.945C>A | XP_024309744.1:p.Ala315= | |
XM_024453977.1:c.945C>A | XP_024309745.1:p.Ala315= | |
XM_024453978.1:c.945C>A | XP_024309746.1:p.Ala315= | |
NM_000812.4:c.1044C>A MANE Select | NP_000803.2:p.Ala348= |