HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647040G>C , CM000669.2:g.100647040G>C | GRCh38 |
NC_000007.13:g.100244663G>C , CM000669.1:g.100244663G>C | GRCh37 |
NC_000007.12:g.100082599G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.867C>G MANE Select | ENSP00000160382.5:p.Gly289= | |
ENST00000160382.9:c.867C>G | ENSP00000160382.5:p.Gly289= | |
ENST00000487125.1:n.429C>G | ||
NM_016188.4:c.867C>G | NP_057272.1:p.Gly289= | |
XR_927476.1:n.974C>G | ||
NR_134539.1:n.974C>G | ||
NM_016188.5:c.867C>G MANE Select | NP_057272.1:p.Gly289= | |
NR_134539.2:n.961C>G |