HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647006T>G , CM000669.2:g.100647006T>G | GRCh38 |
NC_000007.13:g.100244629T>G , CM000669.1:g.100244629T>G | GRCh37 |
NC_000007.12:g.100082565T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.901A>C MANE Select | ENSP00000160382.5:p.Ile301Leu | |
ENST00000160382.9:c.901A>C | ENSP00000160382.5:p.Ile301Leu | |
ENST00000487125.1:n.463A>C | ||
NM_016188.4:c.901A>C | NP_057272.1:p.Ile301Leu | |
XR_927476.1:n.1008A>C | ||
NR_134539.1:n.1008A>C | ||
NM_016188.5:c.901A>C MANE Select | NP_057272.1:p.Ile301Leu | |
NR_134539.2:n.995A>C |