HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31660060G>A , CM000683.2:g.31660060G>A | GRCh38 |
NC_000021.8:g.33032373G>A , CM000683.1:g.33032373G>A | GRCh37 |
NC_000021.7:g.31954244G>A | NCBI36 |
NG_008689.1:g.5439G>A , LRG_652:g.5439G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+219G>A MANE Select | ENSP00000270142.7:n.72+219G>A | |
ENST00000270142.10:c.72+219G>A | ENSP00000270142.6:n.72+219G>A | |
ENST00000389995.4:c.15+276G>A | ENSP00000374645.4:n.15+276G>A | |
ENST00000470944.1:n.352G>A | ||
ENST00000476106.5:n.149+219G>A | ||
NM_000454.4:c.72+219G>A , LRG_652t1:c.72+219G>A | NP_000445.1:n.72+219G>A | |
NM_000454.5:c.72+219G>A MANE Select | NP_000445.1:n.72+219G>A |