HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154154638G>A , CM000685.2:g.154154638G>A | GRCh38 |
NC_000023.10:g.153420113G>A , CM000685.1:g.153420113G>A | GRCh37 |
NC_000023.9:g.153073307G>A | NCBI36 |
NG_009105.2:g.15388G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369951.9:c.643G>A MANE Select | ENSP00000358967.4:p.Gly215Arg | |
ENST00000369951.8:c.643G>A | ENSP00000358967.4:p.Gly215Arg | |
ENST00000442922.1:c.232G>A | ENSP00000402493.1:p.Gly78Arg | |
ENST00000463296.1:n.588+1530G>A | ||
NM_020061.5:c.643G>A | NP_064445.2:p.Gly215Arg | |
NM_020061.6:c.643G>A MANE Select | NP_064445.2:p.Gly215Arg |