HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167302761G>A , CM000664.2:g.167302761G>A | GRCh38 |
NC_000002.11:g.168159271G>A , CM000664.1:g.168159271G>A | GRCh37 |
NC_000002.10:g.167867517G>A | NCBI36 |
NG_050644.1:g.14701G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392690.4:c.-511+9427G>A MANE Select | ENSP00000376456.2:n.-511+9427G>A | |
XM_005246931.2:c.-511+9427G>A | XP_005246988.1:n.-511+9427G>A | |
XM_011512085.1:c.-527+9427G>A | XP_011510387.1:n.-527+9427G>A | |
XM_005246931.3:c.-511+9427G>A | XP_005246988.1:n.-511+9427G>A | |
XM_011512085.2:c.-527+9427G>A | XP_011510387.1:n.-527+9427G>A | |
NM_020981.4:c.-511+9427G>A MANE Select | NP_066191.1:n.-511+9427G>A |