HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023817C>A , CM000674.2:g.6023817C>A | GRCh38 |
NC_000012.11:g.6132983C>A , CM000674.1:g.6132983C>A | GRCh37 |
NC_000012.10:g.6003244C>A | NCBI36 |
NG_009072.1:g.105854G>T | |
NG_009072.2:g.105854G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3223-30G>T MANE Select | ENSP00000261405.5:n.3223-30G>T | |
ENST00000261405.9:c.3223-30G>T | ENSP00000261405.5:n.3223-30G>T | |
ENST00000538635.5:n.421-29883G>T | ||
NM_000552.3:c.3223-30G>T | NP_000543.2:n.3223-30G>T | |
NM_000552.4:c.3223-30G>T | NP_000543.2:n.3223-30G>T | |
NM_000552.5:c.3223-30G>T MANE Select | NP_000543.3:n.3223-30G>T |