HGVS | Genome Assembly |
---|---|
NC_000011.10:g.45869867G>A , CM000673.2:g.45869867G>A | GRCh38 |
NC_000011.9:g.45891418G>A , CM000673.1:g.45891418G>A | GRCh37 |
NC_000011.8:g.45847994G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000616080.2:c.1194+50G>A MANE Select | ENSP00000484684.1:n.1194+50G>A | |
ENST00000417225.6:c.1011+50G>A | ENSP00000397419.2:n.1011+50G>A | |
ENST00000443527.6:c.1257+50G>A | ENSP00000406751.2:n.1257+50G>A | |
ENST00000616080.1:c.1194+50G>A | ENSP00000484684.1:n.1194+50G>A | |
ENST00000616623.4:c.1257+50G>A | ENSP00000478187.1:n.1257+50G>A | |
NM_001127457.2:c.1011+50G>A | NP_001120929.1:n.1011+50G>A | |
NM_021117.3:c.1257+50G>A | NP_066940.2:n.1257+50G>A | |
NM_021117.4:c.1194+50G>A | NP_066940.3:n.1194+50G>A | |
NM_021117.5:c.1194+50G>A MANE Select | NP_066940.3:n.1194+50G>A | |
NM_001127457.3:c.1011+50G>A | NP_001120929.1:n.1011+50G>A |