HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88427392G>A , CM000678.2:g.88427392G>A | GRCh38 |
NC_000016.9:g.88493800G>A , CM000678.1:g.88493800G>A | GRCh37 |
NC_000016.8:g.87021301G>A | NCBI36 |
NG_012236.2:g.4922G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000565624.3:c.-79G>A MANE Select | ENSP00000456500.2:n.-79G>A | |
XM_011523386.1:c.-79G>A | XP_011521688.1:n.-79G>A | |
XM_011523387.1:c.-79G>A | XP_011521689.1:n.-79G>A | |
XM_011523388.1:c.-79G>A | XP_011521690.1:n.-79G>A | |
XM_017023784.1:c.-79G>A | XP_016879273.1:n.-79G>A | |
XM_017023785.1:c.-79G>A | XP_016879274.1:n.-79G>A | |
XR_002957934.1:n.250+2572C>T | ||
NM_001367624.2:c.-79G>A MANE Select | NP_001354553.1:n.-79G>A |