HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43417430C>T , CM000683.2:g.43417430C>T | GRCh38 |
NG_052009.1:g.14703G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.1976+113G>A MANE Select | ENSP00000270162.6:n.1976+113G>A | |
ENST00000270162.6:c.1976+113G>A | ENSP00000270162.6:n.1976+113G>A | |
NM_173354.3:c.1976+113G>A | NP_775490.2:n.1976+113G>A | |
XM_011529474.1:c.1829+113G>A | XP_011527776.1:n.1829+113G>A | |
NM_173354.4:c.1976+113G>A | NP_775490.2:n.1976+113G>A | |
XM_011529474.2:c.1829+113G>A | XP_011527776.1:n.1829+113G>A | |
NM_173354.5:c.1976+113G>A MANE Select | NP_775490.2:n.1976+113G>A |