HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6031722G>T , CM000674.2:g.6031722G>T | GRCh38 |
NC_000012.11:g.6140888G>T , CM000674.1:g.6140888G>T | GRCh37 |
NC_000012.10:g.6011149G>T | NCBI36 |
NG_009072.1:g.97949C>A | |
NG_009072.2:g.97949C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2686-144C>A MANE Select | ENSP00000261405.5:n.2686-144C>A | |
ENST00000261405.9:c.2686-144C>A | ENSP00000261405.5:n.2686-144C>A | |
ENST00000538635.5:n.421-37788C>A | ||
NM_000552.3:c.2686-144C>A | NP_000543.2:n.2686-144C>A | |
NM_000552.4:c.2686-144C>A | NP_000543.2:n.2686-144C>A | |
NM_000552.5:c.2686-144C>A MANE Select | NP_000543.3:n.2686-144C>A |