HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241675T>G , CM000667.2:g.157241675T>G | GRCh38 |
NC_000005.9:g.156668685T>G , CM000667.1:g.156668685T>G | GRCh37 |
NC_000005.8:g.156601263T>G | NCBI36 |
NG_016276.1:g.65779T>G , LRG_189:g.65779T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696962.1:c.881T>G | ENSP00000513001.1:p.Leu294Trp | |
ENST00000422843.8:c.1015T>G MANE Select | ENSP00000398655.4:p.Cys339Gly | |
ENST00000422843.7:c.1015T>G | ENSP00000398655.3:p.Cys339Gly | |
ENST00000519402.5:n.2600T>G | ||
ENST00000519749.1:n.85T>G | ||
ENST00000520173.1:n.133T>G | ||
NM_005546.3:c.1015T>G , LRG_189t1:c.1015T>G | NP_005537.3:p.Cys339Gly | |
XM_017009443.1:c.640T>G | XP_016864932.1:p.Cys214Gly | |
NM_005546.4:c.1015T>G MANE Select | NP_005537.3:p.Cys339Gly |