HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408748G>C , CM000685.2:g.38408748G>C | GRCh38 |
NC_000023.10:g.38268001G>C , CM000685.1:g.38268001G>C | GRCh37 |
NC_000023.9:g.38152945G>C | NCBI36 |
NG_008471.1:g.61266G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.670G>C MANE Select | ENSP00000039007.4:p.Glu224Gln | |
ENST00000643344.1:c.*420G>C | ENSP00000496606.1:n.*420G>C | |
ENST00000039007.4:c.670G>C | ENSP00000039007.4:p.Glu224Gln | |
ENST00000465127.1:c.172-257373G>C | ENSP00000417050.1:n.172-257373G>C | |
NM_000531.5:c.670G>C | NP_000522.3:p.Glu224Gln | |
XM_017029556.1:c.670G>C | XP_016885045.1:p.Glu224Gln | |
NM_000531.6:c.670G>C MANE Select | NP_000522.3:p.Glu224Gln |