HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6058012G>A , CM000674.2:g.6058012G>A | GRCh38 |
NC_000012.11:g.6167178G>A , CM000674.1:g.6167178G>A | GRCh37 |
NC_000012.10:g.6037439G>A | NCBI36 |
NG_009072.1:g.71659C>T | |
NG_009072.2:g.71659C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.1566C>T MANE Select | ENSP00000261405.5:p.Gly522= | |
ENST00000261405.9:c.1566C>T | ENSP00000261405.5:p.Gly522= | |
ENST00000538635.5:n.420+52503C>T | ||
NM_000552.3:c.1566C>T | NP_000543.2:p.Gly522= | |
NM_000552.4:c.1566C>T | NP_000543.2:p.Gly522= | |
NM_000552.5:c.1566C>T MANE Select | NP_000543.3:p.Gly522= |