HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408742G>C , CM000685.2:g.38408742G>C | GRCh38 |
NC_000023.10:g.38267995G>C , CM000685.1:g.38267995G>C | GRCh37 |
NC_000023.9:g.38152939G>C | NCBI36 |
NG_008471.1:g.61260G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.664G>C MANE Select | ENSP00000039007.4:p.Gly222Arg | |
ENST00000643344.1:c.*414G>C | ENSP00000496606.1:n.*414G>C | |
ENST00000039007.4:c.664G>C | ENSP00000039007.4:p.Gly222Arg | |
ENST00000465127.1:c.172-257379G>C | ENSP00000417050.1:n.172-257379G>C | |
NM_000531.5:c.664G>C | NP_000522.3:p.Gly222Arg | |
XM_017029556.1:c.664G>C | XP_016885045.1:p.Gly222Arg | |
NM_000531.6:c.664G>C MANE Select | NP_000522.3:p.Gly222Arg |