HGVS | Genome Assembly |
---|---|
NC_000016.10:g.25933245G>A , CM000678.2:g.25933245G>A | GRCh38 |
NC_000016.9:g.25944566G>A , CM000678.1:g.25944566G>A | GRCh37 |
NC_000016.8:g.25852067G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331351.6:c.735-202367G>A MANE Select | ENSP00000330606.5:n.735-202367G>A | |
ENST00000331351.5:c.735-202367G>A | ENSP00000330606.5:n.735-202367G>A | |
ENST00000475436.1:n.176+46324G>A | ||
NM_006040.2:c.735-202367G>A | NP_006031.2:n.735-202367G>A | |
NM_006040.3:c.735-202367G>A MANE Select | NP_006031.2:n.735-202367G>A |