HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474946G>A , CM000684.2:g.32474946G>A | GRCh38 |
NC_000022.10:g.32870933G>A , CM000684.1:g.32870933G>A | GRCh37 |
NC_000022.9:g.31200933G>A | NCBI36 |
NG_016001.1:g.5227G>A | |
NG_016001.2:g.5227G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.-57G>A MANE Select | ENSP00000266087.7:n.-57G>A | |
ENST00000266087.11:c.-57G>A | ENSP00000266087.7:n.-57G>A | |
ENST00000420700.5:c.-57G>A | ENSP00000406155.1:n.-57G>A | |
ENST00000425028.5:c.-57G>A | ENSP00000395823.1:n.-57G>A | |
NM_012179.3:c.-57G>A | NP_036311.3:n.-57G>A | |
XM_011530106.1:c.-230G>A | XP_011528408.1:n.-230G>A | |
XM_024452207.1:c.-247G>A | XP_024307975.1:n.-247G>A | |
NM_012179.4:c.-57G>A MANE Select | NP_036311.3:n.-57G>A |