HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241650G>C , CM000667.2:g.157241650G>C | GRCh38 |
NC_000005.9:g.156668660G>C , CM000667.1:g.156668660G>C | GRCh37 |
NC_000005.8:g.156601238G>C | NCBI36 |
NG_016276.1:g.65754G>C , LRG_189:g.65754G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.856G>C | ENSP00000513001.1:p.Gly286Arg | |
ENST00000422843.8:c.990G>C MANE Select | ENSP00000398655.4:p.Leu330= | |
ENST00000422843.7:c.990G>C | ENSP00000398655.3:p.Leu330= | |
ENST00000519402.5:n.2575G>C | ||
ENST00000519749.1:n.60G>C | ||
ENST00000520173.1:n.108G>C | ||
NM_005546.3:c.990G>C , LRG_189t1:c.990G>C | NP_005537.3:p.Leu330= | |
XM_017009443.1:c.615G>C | XP_016864932.1:p.Leu205= | |
NM_005546.4:c.990G>C MANE Select | NP_005537.3:p.Leu330= |