HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43077068C>A , CM000672.2:g.43077068C>A | GRCh38 |
NC_000010.10:g.43572516C>A , CM000672.1:g.43572516C>A | GRCh37 |
NC_000010.9:g.42892522C>A | NCBI36 |
NG_007489.1:g.5000C>A , LRG_518:g.5000C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000671844.1:c.-191C>A | ENSP00000500541.1:n.-191C>A | |
ENST00000355710.7:c.-191C>A | ENSP00000347942.3:n.-191C>A | |
XM_011540027.1:c.-191C>A | XP_011538329.1:n.-191C>A | |
NM_020630.5:c.-191C>A | NP_065681.1:n.-191C>A | |
NM_020975.5:c.-191C>A | NP_066124.1:n.-191C>A |