HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240877583T>G , CM000664.2:g.240877583T>G | GRCh38 |
NC_000002.11:g.241817000T>G , CM000664.1:g.241817000T>G | GRCh37 |
NC_000002.10:g.241465673T>G | NCBI36 |
NG_008005.1:g.13839T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.893T>G MANE Select | ENSP00000302620.3:p.Leu298Arg | |
ENST00000307503.3:c.893T>G | ENSP00000302620.3:p.Leu298Arg | |
ENST00000470255.1:n.671T>G | ||
NM_000030.2:c.893T>G | NP_000021.1:p.Leu298Arg | |
NM_000030.3:c.893T>G MANE Select | NP_000021.1:p.Leu298Arg |