HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848328A>T , CM000681.2:g.40848328A>T | GRCh38 |
NC_000019.9:g.41354233A>T , CM000681.1:g.41354233A>T | GRCh37 |
NC_000019.8:g.46046073A>T | NCBI36 |
NG_008377.1:g.7120T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.545T>A MANE Select | ENSP00000301141.4:p.Ile182Asn | |
ENST00000301141.9:c.545T>A | ENSP00000301141.4:p.Ile182Asn | |
ENST00000596719.5:n.396T>A | ||
ENST00000600495.1:c.*357T>A | ENSP00000472905.1:n.*357T>A | |
ENST00000601627.1:c.120-43663A>T | ||
ENST00000610301.1:c.545T>A | ENSP00000477899.1:p.Ile182Asn | |
NM_000762.5:c.545T>A | NP_000753.3:p.Ile182Asn | |
NM_000762.6:c.545T>A MANE Select | NP_000753.3:p.Ile182Asn |