HGVS | Genome Assembly |
---|---|
NC_000008.11:g.42732545G>A , CM000670.2:g.42732545G>A | GRCh38 |
NC_000008.10:g.42587688G>A , CM000670.1:g.42587688G>A | GRCh37 |
NC_000008.9:g.42706845G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289957.3:c.1238G>A MANE Select | ENSP00000289957.2:p.Ser413Asn | |
ENST00000289957.2:c.1238G>A | ENSP00000289957.2:p.Ser413Asn | |
NM_000749.3:c.1238G>A | NP_000740.1:p.Ser413Asn | |
XM_011544390.1:c.851G>A | XP_011542692.1:p.Ser284Asn | |
NM_000749.4:c.1238G>A | NP_000740.1:p.Ser413Asn | |
NM_001347717.1:c.1016G>A | NP_001334646.1:p.Ser339Asn | |
XM_011544390.2:c.851G>A | XP_011542692.1:p.Ser284Asn | |
NM_000749.5:c.1238G>A MANE Select | NP_000740.1:p.Ser413Asn | |
NM_001347717.2:c.1016G>A | NP_001334646.1:p.Ser339Asn |