HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230995876G>C , CM000663.2:g.230995876G>C | GRCh38 |
NC_000001.10:g.231131622G>C , CM000663.1:g.231131622G>C | GRCh37 |
NC_000001.9:g.229198245G>C | NCBI36 |
NG_052022.1:g.21828G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310256.7:c.565G>C MANE Select | ENSP00000312458.2:p.Gly189Arg | |
ENST00000310256.6:c.565G>C | ENSP00000312458.2:p.Gly189Arg | |
ENST00000366658.6:c.445G>C | ENSP00000355618.2:p.Gly149Arg | |
ENST00000435927.5:c.624G>C | ||
ENST00000450711.5:c.555G>C | ||
ENST00000459891.1:c.117G>C | ||
ENST00000480519.5:c.493G>C | ENSP00000436763.1:p.Gly165Arg | |
ENST00000497753.1:n.930G>C | ||
NM_022786.1:c.565G>C | NP_073623.1:p.Gly189Arg | |
XR_949154.1:n.596G>C | ||
NM_001346992.1:c.664G>C | NP_001333921.1:p.Gly222Arg | |
NM_022786.2:c.565G>C | NP_073623.1:p.Gly189Arg | |
NR_144538.1:n.622G>C | ||
XM_024449202.1:c.688G>C | XP_024304970.1:p.Gly230Arg | |
XR_002957381.1:n.712G>C | ||
NM_022786.3:c.565G>C MANE Select | NP_073623.1:p.Gly189Arg | |
NM_001346992.2:c.664G>C | NP_001333921.1:p.Gly222Arg | |
NR_144538.2:n.577G>C |