HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3586681G>A , CM000681.2:g.3586681G>A | GRCh38 |
NC_000019.9:g.3586679G>A , CM000681.1:g.3586679G>A | GRCh37 |
NC_000019.8:g.3537679G>A | NCBI36 |
NG_031943.1:g.6111G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644452.3:c.411+1G>A MANE Select | ENSP00000493901.2:n.411+1G>A | |
ENST00000644946.1:c.411+1G>A | ENSP00000495068.1:n.411+1G>A | |
ENST00000322315.5:c.411+1G>A | ENSP00000319254.5:n.411+1G>A | |
NM_133261.2:c.411+1G>A | NP_573568.1:n.411+1G>A | |
XM_005259492.2:c.411+1G>A | XP_005259549.1:n.411+1G>A | |
XM_005259492.3:c.411+1G>A | XP_005259549.1:n.411+1G>A | |
NM_133261.3:c.411+1G>A MANE Select | NP_573568.1:n.411+1G>A |