HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352599C>T , CM000671.2:g.133352599C>T | GRCh38 |
NC_000009.10:g.135209275C>T | NCBI36 |
NG_008477.1:g.8908G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.598G>A MANE Select | ENSP00000361042.3:p.Glu200Lys | |
ENST00000371974.7:c.598G>A | ENSP00000361042.3:p.Glu200Lys | |
ENST00000437995.1:n.508G>A | ||
ENST00000495952.5:n.588G>A | ||
ENST00000615505.4:c.271G>A | ENSP00000482067.1:p.Glu91Lys | |
NM_001280787.1:c.271G>A | NP_001267716.1:p.Glu91Lys | |
NM_003172.3:c.598G>A | NP_003163.1:p.Glu200Lys | |
XM_011518942.1:c.271G>A | XP_011517244.1:p.Glu91Lys | |
NM_003172.4:c.598G>A MANE Select | NP_003163.1:p.Glu200Lys |