HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408902T>A , CM000685.2:g.38408902T>A | GRCh38 |
NC_000023.10:g.38268155T>A , CM000685.1:g.38268155T>A | GRCh37 |
NC_000023.9:g.38153099T>A | NCBI36 |
NG_008471.1:g.61420T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.744T>A MANE Select | ENSP00000039007.4:p.Asn248Lys | |
ENST00000643344.1:c.*494T>A | ENSP00000496606.1:n.*494T>A | |
ENST00000039007.4:c.744T>A | ENSP00000039007.4:p.Asn248Lys | |
ENST00000465127.1:c.172-257219T>A | ENSP00000417050.1:n.172-257219T>A | |
NM_000531.5:c.744T>A | NP_000522.3:p.Asn248Lys | |
XM_017029556.1:c.744T>A | XP_016885045.1:p.Asn248Lys | |
NM_000531.6:c.744T>A MANE Select | NP_000522.3:p.Asn248Lys |