HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14143705G>A , CM000667.2:g.14143705G>A | GRCh38 |
NC_000005.9:g.14143814G>A , CM000667.1:g.14143814G>A | GRCh37 |
NC_000005.8:g.14196814G>A | NCBI36 |
NG_052962.1:g.5004G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698541.1:c.-21G>A | ENSP00000513786.1:n.-21G>A | |
ENST00000344204.9:c.-21G>A MANE Select | ENSP00000339299.4:n.-21G>A | |
ENST00000344204.8:c.-21G>A | ENSP00000339299.4:n.-21G>A | |
ENST00000502816.1:n.4G>A | ||
ENST00000505971.5:n.4G>A | ||
NM_007118.3:c.-21G>A | NP_009049.2:n.-21G>A | |
NR_134469.1:n.4G>A | ||
XM_017009801.1:c.-21G>A | XP_016865290.1:n.-21G>A | |
XM_017009802.1:c.-21G>A | XP_016865291.1:n.-21G>A | |
XR_001742236.2:n.356G>A | ||
NM_007118.4:c.-21G>A MANE Select | NP_009049.2:n.-21G>A | |
NR_134469.2:n.364G>A |