HGVS | Genome Assembly |
---|---|
NC_000015.10:g.45393610T>C , CM000677.2:g.45393610T>C | GRCh38 |
NC_000015.9:g.45685808T>C , CM000677.1:g.45685808T>C | GRCh37 |
NC_000015.8:g.43473100T>C | NCBI36 |
NG_011674.2:g.13708A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000458245.5:n.640+3312A>G | ||
ENST00000527933.2:n.512+2557A>G | ||
ENST00000560538.1:n.338+3312A>G | ||
ENST00000561148.5:c.-319+3312A>G | ENSP00000453860.1:n.-319+3312A>G | |
XM_011521450.1:c.31+3312A>G | XP_011519752.1:n.31+3312A>G | |
NM_001321015.1:c.-395+3312A>G | NP_001307944.1:n.-395+3312A>G | |
NM_001321015.2:c.-395+3312A>G | NP_001307944.1:n.-395+3312A>G |