HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62576995G>T , CM000673.2:g.62576995G>T | GRCh38 |
NC_000011.9:g.62344467G>T , CM000673.1:g.62344467G>T | GRCh37 |
NC_000011.8:g.62101043G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000476907.6:c.1293C>A MANE Select | ENSP00000419607.1:p.Asn431Lys | |
ENST00000308436.11:c.1407C>A | ENSP00000308000.7:p.Asn469Lys | |
ENST00000463241.2:n.158C>A | ||
ENST00000469480.1:n.99C>A | ||
ENST00000476907.5:c.1293C>A | ENSP00000419607.1:p.Asn431Lys | |
ENST00000496634.2:c.1293C>A | ENSP00000456163.1:p.Asn431Lys | |
ENST00000526409.5:n.163C>A | ||
NM_022830.2:c.1407C>A | NP_073741.2:p.Asn469Lys | |
NM_001367906.1:c.1271-37C>A | NP_001354835.1:n.1271-37C>A | |
NM_022830.3:c.1293C>A MANE Select | NP_073741.3:p.Asn431Lys |