HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44160033C>T , CM000682.2:g.44160033C>T | GRCh38 |
NC_000020.10:g.42788673C>T , CM000682.1:g.42788673C>T | GRCh37 |
NC_000020.9:g.42222087C>T | NCBI36 |
NG_031867.1:g.32546G>A , LRG_394:g.32546G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372980.4:c.754G>A MANE Select | ENSP00000362071.3:p.Asp252Asn | |
ENST00000372980.3:c.754G>A | ENSP00000362071.3:p.Asp252Asn | |
NM_020433.4:c.754G>A , LRG_394t1:c.754G>A | NP_065166.2:p.Asp252Asn | |
XM_006723832.2:c.754G>A | XP_006723895.1:p.Asp252Asn | |
NM_020433.5:c.754G>A MANE Select | NP_065166.2:p.Asp252Asn |