HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55052755T>G , CM000663.2:g.55052755T>G | GRCh38 |
NC_000001.10:g.55518428T>G , CM000663.1:g.55518428T>G | GRCh37 |
NC_000001.9:g.55291016T>G | NCBI36 |
NG_009061.1:g.18209T>G , LRG_275:g.18209T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.763T>G | ENSP00000501161.2:p.Cys255Gly | |
ENST00000710286.1:c.1120T>G | ENSP00000518176.1:p.Cys374Gly | |
ENST00000673903.1:c.388T>G | ENSP00000501257.1:p.Cys130Gly | |
ENST00000302118.5:c.763T>G MANE Select | ENSP00000303208.5:p.Cys255Gly | |
ENST00000490692.1:n.1584T>G | ||
NM_174936.3:c.763T>G , LRG_275t1:c.763T>G | NP_777596.2:p.Cys255Gly | |
NR_110451.1:n.422T>G | ||
NM_174936.4:c.763T>G MANE Select | NP_777596.2:p.Cys255Gly | |
NR_110451.2:n.422T>G |