HGVS | Genome Assembly |
---|---|
NC_000015.10:g.45393694G>A , CM000677.2:g.45393694G>A | GRCh38 |
NC_000015.9:g.45685892G>A , CM000677.1:g.45685892G>A | GRCh37 |
NC_000015.8:g.43473184G>A | NCBI36 |
NG_011674.2:g.13624C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000458245.5:n.640+3228C>T | ||
ENST00000527933.2:n.512+2473C>T | ||
ENST00000560538.1:n.338+3228C>T | ||
ENST00000561148.5:c.-319+3228C>T | ENSP00000453860.1:n.-319+3228C>T | |
XM_011521450.1:c.31+3228C>T | XP_011519752.1:n.31+3228C>T | |
NM_001321015.1:c.-395+3228C>T | NP_001307944.1:n.-395+3228C>T | |
NM_001321015.2:c.-395+3228C>T | NP_001307944.1:n.-395+3228C>T |