HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43120057G>A , CM000672.2:g.43120057G>A | GRCh38 |
NC_000010.10:g.43615505G>A , CM000672.1:g.43615505G>A | GRCh37 |
NC_000010.9:g.42935511G>A | NCBI36 |
NG_007489.1:g.47989G>A , LRG_518:g.47989G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000615310.5:c.2212-24G>A | ENSP00000480088.2:n.2212-24G>A | |
ENST00000683007.1:n.2182-24G>A | ||
ENST00000683872.1:n.2173-24G>A | ||
ENST00000340058.6:c.2608-24G>A | ENSP00000344798.4:n.2608-24G>A | |
ENST00000355710.8:c.2608-24G>A MANE Select | ENSP00000347942.3:n.2608-24G>A | |
ENST00000671844.1:c.*1202-24G>A | ENSP00000500541.1:n.*1202-24G>A | |
ENST00000672389.1:c.*1202-24G>A | ENSP00000500252.1:n.*1202-24G>A | |
ENST00000340058.5:c.2608-24G>A | ENSP00000344798.4:n.2608-24G>A | |
ENST00000355710.7:c.2608-24G>A | ENSP00000347942.3:n.2608-24G>A | |
ENST00000615310.4:c.1334-24G>A | ENSP00000480088.1:n.1334-24G>A | |
NM_020630.4:c.2608-24G>A , LRG_518t2:c.2608-24G>A | NP_065681.1:n.2608-24G>A | |
NM_020975.4:c.2608-24G>A , LRG_518t1:c.2608-24G>A | NP_066124.1:n.2608-24G>A | |
XM_011540027.1:c.2608-24G>A | XP_011538329.1:n.2608-24G>A | |
NM_001355216.1:c.1846-24G>A | NP_001342145.1:n.1846-24G>A | |
NM_020630.5:c.2608-24G>A | NP_065681.1:n.2608-24G>A | |
NM_020975.5:c.2608-24G>A | NP_066124.1:n.2608-24G>A | |
NM_020975.6:c.2608-24G>A MANE Select | NP_066124.1:n.2608-24G>A | |
NM_020630.6:c.2608-24G>A | NP_065681.1:n.2608-24G>A |