HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731895G>C , CM000685.2:g.8731895G>C | GRCh38 |
NC_000023.10:g.8699936G>C , CM000685.1:g.8699936G>C | GRCh37 |
NC_000023.9:g.8659936G>C | NCBI36 |
NG_007088.1:g.5292C>G | |
NG_007088.2:g.5292C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262648.8:c.142C>G MANE Select | ENSP00000262648.3:p.Arg48Gly | |
ENST00000262648.7:c.142C>G | ENSP00000262648.3:p.Arg48Gly | |
ENST00000619786.1:c.140C>G | ENSP00000478734.1:p.Ser47Trp | |
NM_000216.2:c.142C>G | NP_000207.2:p.Arg48Gly | |
XM_005274501.3:c.142C>G | XP_005274558.1:p.Arg48Gly | |
NM_000216.3:c.142C>G | NP_000207.2:p.Arg48Gly | |
XM_005274501.4:c.142C>G | XP_005274558.1:p.Arg48Gly | |
NM_000216.4:c.142C>G MANE Select | NP_000207.2:p.Arg48Gly |