HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868879A>G , CM000664.2:g.240868879A>G | GRCh38 |
NC_000002.11:g.241808296A>G , CM000664.1:g.241808296A>G | GRCh37 |
NC_000002.10:g.241456969A>G | NCBI36 |
NG_008005.1:g.5135A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.14A>G MANE Select | ENSP00000302620.3:p.Lys5Arg | |
ENST00000307503.3:c.14A>G | ENSP00000302620.3:p.Lys5Arg | |
ENST00000472436.1:n.34A>G | ||
NM_000030.2:c.14A>G | NP_000021.1:p.Lys5Arg | |
XR_924060.1:n.405+1354T>C | ||
NM_000030.3:c.14A>G MANE Select | NP_000021.1:p.Lys5Arg |