HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74917268G>T , CM000679.2:g.74917268G>T | GRCh38 |
NC_000017.10:g.72913362G>T , CM000679.1:g.72913362G>T | GRCh37 |
NC_000017.9:g.70424957G>T | NCBI36 |
NG_007882.1:g.10990C>A | |
NG_007882.2:g.10996C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.*805C>A MANE Select | ENSP00000480279.1:n.*805C>A | |
ENST00000614341.4:c.*805C>A | ENSP00000480279.1:n.*805C>A | |
NM_001282489.2:c.*805C>A | NP_001269418.1:n.*805C>A | |
NM_173477.4:c.*805C>A | NP_775748.2:n.*805C>A | |
XM_011524296.1:c.*805C>A | XP_011522598.1:n.*805C>A | |
XM_011524296.2:c.*805C>A | XP_011522598.1:n.*805C>A | |
NM_173477.5:c.*805C>A MANE Select | NP_775748.2:n.*805C>A | |
NM_001282489.3:c.*805C>A | NP_001269418.1:n.*805C>A |