HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100646820C>G , CM000669.2:g.100646820C>G | GRCh38 |
NC_000007.13:g.100244443C>G , CM000669.1:g.100244443C>G | GRCh37 |
NC_000007.12:g.100082379C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.948G>C MANE Select | ENSP00000160382.5:p.Gly316= | |
ENST00000160382.9:c.948G>C | ENSP00000160382.5:p.Gly316= | |
ENST00000487125.1:n.510G>C | ||
NM_016188.4:c.948G>C | NP_057272.1:p.Gly316= | |
XR_927476.1:n.1055G>C | ||
NR_134539.1:n.1055G>C | ||
NM_016188.5:c.948G>C MANE Select | NP_057272.1:p.Gly316= | |
NR_134539.2:n.1042G>C |