HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73367876A>T , CM000677.2:g.73367876A>T | GRCh38 |
NC_000015.9:g.73660217A>T , CM000677.1:g.73660217A>T | GRCh37 |
NC_000015.8:g.71447270A>T | NCBI36 |
NG_009063.1:g.6389T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.395T>A MANE Select | ENSP00000261917.3:p.Ile132Asn | |
ENST00000261917.3:c.395T>A | ENSP00000261917.3:p.Ile132Asn | |
NM_005477.2:c.395T>A | NP_005468.1:p.Ile132Asn | |
NM_005477.3:c.395T>A MANE Select | NP_005468.1:p.Ile132Asn |