HGVS | Genome Assembly |
---|---|
NC_000008.11:g.42732528G>T , CM000670.2:g.42732528G>T | GRCh38 |
NC_000008.10:g.42587671G>T , CM000670.1:g.42587671G>T | GRCh37 |
NC_000008.9:g.42706828G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289957.3:c.1221G>T MANE Select | ENSP00000289957.2:p.Lys407Asn | |
ENST00000289957.2:c.1221G>T | ENSP00000289957.2:p.Lys407Asn | |
NM_000749.3:c.1221G>T | NP_000740.1:p.Lys407Asn | |
XM_011544390.1:c.834G>T | XP_011542692.1:p.Lys278Asn | |
NM_000749.4:c.1221G>T | NP_000740.1:p.Lys407Asn | |
NM_001347717.1:c.999G>T | NP_001334646.1:p.Lys333Asn | |
XM_011544390.2:c.834G>T | XP_011542692.1:p.Lys278Asn | |
NM_000749.5:c.1221G>T MANE Select | NP_000740.1:p.Lys407Asn | |
NM_001347717.2:c.999G>T | NP_001334646.1:p.Lys333Asn |