HGVS | Genome Assembly |
---|---|
NC_000012.12:g.130876170A>C , CM000674.2:g.130876170A>C | GRCh38 |
NC_000012.11:g.131360715A>C , CM000674.1:g.131360715A>C | GRCh37 |
NC_000012.10:g.129926668A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000543796.6:c.*244A>C MANE Select | ENSP00000446215.1:n.*244A>C | |
ENST00000392369.6:c.*244A>C | ENSP00000376176.2:n.*244A>C | |
ENST00000448750.7:c.949A>C | ENSP00000396127.3:n.949A>C | |
ENST00000541630.5:c.*244A>C | ENSP00000441210.1:n.*244A>C | |
ENST00000541679.7:c.*291A>C | ENSP00000483687.1:n.*291A>C | |
ENST00000543796.5:c.*244A>C | ENSP00000446215.1:n.*244A>C | |
NM_001300796.1:c.*244A>C | NP_001287725.1:n.*244A>C | |
NM_001300797.1:c.*244A>C | NP_001287726.1:n.*244A>C | |
NM_006325.4:c.*244A>C | NP_006316.1:n.*244A>C | |
XM_017019772.1:c.*325A>C | XP_016875261.1:n.*325A>C | |
XM_017019773.1:c.*325A>C | XP_016875262.1:n.*325A>C | |
NM_006325.5:c.*244A>C MANE Select | NP_006316.1:n.*244A>C | |
NM_001300796.2:c.*244A>C | NP_001287725.1:n.*244A>C | |
NM_001300797.2:c.*244A>C | NP_001287726.1:n.*244A>C |