HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333587C>T , CM000673.2:g.47333587C>T | GRCh38 |
NC_000011.9:g.47355138C>T , CM000673.1:g.47355138C>T | GRCh37 |
NC_000011.8:g.47311714C>T | NCBI36 |
NG_007667.1:g.24116G>A , LRG_386:g.24116G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3160G>A MANE Select | ENSP00000442795.1:p.Asp1054Asn | |
ENST00000256993.8:c.3160G>A | ENSP00000256993.5:p.Asp1054Asn | |
ENST00000399249.6:c.3160G>A | ENSP00000382193.2:p.Asp1054Asn | |
ENST00000545968.5:c.3160G>A | ENSP00000442795.1:p.Asp1054Asn | |
NM_000256.3:c.3160G>A , LRG_386t1:c.3160G>A MANE Select | NP_000247.2:p.Asp1054Asn | |
XM_011520117.1:c.3142G>A | XP_011518419.1:p.Asp1048Asn | |
XM_011520118.1:c.3079G>A | XP_011518420.1:p.Asp1027Asn |