HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35575814G>T , CM000679.2:g.35575814G>T | GRCh38 |
NC_000017.10:g.33902833G>T , CM000679.1:g.33902833G>T | GRCh37 |
NC_000017.9:g.30926946G>T | NCBI36 |
NG_008447.1:g.7824C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225873.9:c.1048C>A MANE Select | ENSP00000225873.3:p.His350Asn | |
ENST00000586663.2:c.1048C>A | ENSP00000466894.2:p.His350Asn | |
ENST00000225873.8:c.1048C>A | ENSP00000225873.3:p.His350Asn | |
ENST00000586663.1:c.1048C>A | ENSP00000466894.1:p.His350Asn | |
ENST00000613219.4:c.1048C>A | ENSP00000482609.1:p.His350Asn | |
NM_000286.2:c.1048C>A | NP_000277.1:p.His350Asn | |
NM_000286.3:c.1048C>A MANE Select | NP_000277.1:p.His350Asn |