HGVS | Genome Assembly |
---|---|
NC_000004.12:g.47406923C>G , CM000666.2:g.47406923C>G | GRCh38 |
NC_000004.11:g.47408940C>G , CM000666.1:g.47408940C>G | GRCh37 |
NC_000004.10:g.47103697C>G | NCBI36 |
NG_051831.1:g.380646C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295454.8:c.1077C>G MANE Select | ENSP00000295454.3:p.Val359= | |
ENST00000295454.7:c.1077C>G | ENSP00000295454.3:p.Val359= | |
NM_000812.3:c.1077C>G | NP_000803.2:p.Val359= | |
XM_011513678.1:c.1056C>G | XP_011511980.1:p.Val352= | |
XM_017007985.1:c.426C>G | XP_016863474.1:p.Val142= | |
XM_024453976.1:c.978C>G | XP_024309744.1:p.Val326= | |
XM_024453977.1:c.978C>G | XP_024309745.1:p.Val326= | |
XM_024453978.1:c.978C>G | XP_024309746.1:p.Val326= | |
NM_000812.4:c.1077C>G MANE Select | NP_000803.2:p.Val359= |