HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241673T>G , CM000667.2:g.157241673T>G | GRCh38 |
NC_000005.9:g.156668683T>G , CM000667.1:g.156668683T>G | GRCh37 |
NC_000005.8:g.156601261T>G | NCBI36 |
NG_016276.1:g.65777T>G , LRG_189:g.65777T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696962.1:c.879T>G | ENSP00000513001.1:p.Ser293Arg | |
ENST00000422843.8:c.1013T>G MANE Select | ENSP00000398655.4:p.Val338Gly | |
ENST00000422843.7:c.1013T>G | ENSP00000398655.3:p.Val338Gly | |
ENST00000519402.5:n.2598T>G | ||
ENST00000519749.1:n.83T>G | ||
ENST00000520173.1:n.131T>G | ||
NM_005546.3:c.1013T>G , LRG_189t1:c.1013T>G | NP_005537.3:p.Val338Gly | |
XM_017009443.1:c.638T>G | XP_016864932.1:p.Val213Gly | |
NM_005546.4:c.1013T>G MANE Select | NP_005537.3:p.Val338Gly |