HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88651945C>T , CM000678.2:g.88651945C>T | GRCh38 |
NC_000016.9:g.88718353C>T , CM000678.1:g.88718353C>T | GRCh37 |
NC_000016.8:g.87245854C>T | NCBI36 |
NG_007291.1:g.4105G>A , LRG_52:g.4105G>A | |
NG_052674.1:g.16209G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301012.8:c.*580G>A MANE Select | ENSP00000301012.3:n.*580G>A | |
ENST00000301012.7:c.*580G>A | ENSP00000301012.3:n.*580G>A | |
ENST00000565149.5:n.2342G>A | ||
ENST00000620002.4:c.*849G>A | ENSP00000479264.1:n.*849G>A | |
NM_002461.2:c.*580G>A | NP_002452.1:n.*580G>A | |
XM_011523086.1:c.*580G>A | XP_011521388.1:n.*580G>A | |
XM_011523087.1:c.*580G>A | XP_011521389.1:n.*580G>A | |
XM_011523088.1:c.*580G>A | XP_011521390.1:n.*580G>A | |
XM_011523089.1:c.*580G>A | XP_011521391.1:n.*580G>A | |
XM_011523086.2:c.*580G>A | XP_011521388.1:n.*580G>A | |
XM_011523087.2:c.*580G>A | XP_011521389.1:n.*580G>A | |
XM_011523088.2:c.*580G>A | XP_011521390.1:n.*580G>A | |
XM_011523089.2:c.*580G>A | XP_011521391.1:n.*580G>A | |
NM_002461.3:c.*580G>A MANE Select | NP_002452.1:n.*580G>A |