HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919692C>T , CM000679.2:g.74919692C>T | GRCh38 |
NC_000017.10:g.72915787C>T , CM000679.1:g.72915787C>T | GRCh37 |
NC_000017.9:g.70427382C>T | NCBI36 |
NG_007882.1:g.8565G>A | |
NG_033062.1:g.418C>T | |
NG_007882.2:g.8572G>A | |
NG_033062.2:g.418C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1144G>A MANE Select | ENSP00000480279.1:p.Asp382Asn | |
ENST00000579243.1:c.*743G>A | ENSP00000462568.1:n.*743G>A | |
ENST00000614341.4:c.1144G>A | ENSP00000480279.1:p.Asp382Asn | |
NM_001282489.2:c.835G>A | NP_001269418.1:p.Asp279Asn | |
NM_173477.4:c.1144G>A | NP_775748.2:p.Asp382Asn | |
XM_011524296.1:c.835G>A | XP_011522598.1:p.Asp279Asn | |
XM_011524296.2:c.835G>A | XP_011522598.1:p.Asp279Asn | |
NM_173477.5:c.1144G>A MANE Select | NP_775748.2:p.Asp382Asn | |
NM_001282489.3:c.835G>A | NP_001269418.1:p.Asp279Asn |