HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66025358G>C , CM000673.2:g.66025358G>C | GRCh38 |
NC_000011.9:g.65792829G>C , CM000673.1:g.65792829G>C | GRCh37 |
NC_000011.8:g.65549405G>C | NCBI36 |
NG_016285.1:g.6160C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312106.6:c.1022C>G MANE Select | ENSP00000309052.5:p.Pro341Arg | |
ENST00000312106.5:c.1022C>G | ENSP00000309052.5:p.Pro341Arg | |
NM_053054.3:c.1022C>G | NP_444282.3:p.Pro341Arg | |
XR_949785.1:n.1162C>G | ||
XR_949786.1:n.1162C>G | ||
XR_949787.1:n.1162C>G | ||
XR_002957121.1:n.1160C>G | ||
XR_002957122.1:n.1161C>G | ||
XR_949785.2:n.1160C>G | ||
XR_949787.2:n.1161C>G | ||
NM_053054.4:c.1022C>G MANE Select | NP_444282.3:p.Pro341Arg |