HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993506C>A , CM000685.2:g.154993506C>A | GRCh38 |
NC_000023.10:g.154221781C>A , CM000685.1:g.154221781C>A | GRCh37 |
NC_000023.9:g.153874975C>A | NCBI36 |
NG_011403.1:g.34218G>T | |
NG_011403.2:g.34218G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.389-358G>T MANE Select | ENSP00000353393.4:n.389-358G>T | |
ENST00000647125.1:c.*175-358G>T | ENSP00000496062.1:n.*175-358G>T | |
ENST00000360256.8:c.389-358G>T | ENSP00000353393.4:n.389-358G>T | |
ENST00000423959.5:c.284-358G>T | ENSP00000409446.1:n.284-358G>T | |
ENST00000453950.1:c.371-358G>T | ENSP00000389153.1:n.371-358G>T | |
NM_000132.3:c.389-358G>T | NP_000123.1:n.389-358G>T | |
XM_011531126.1:c.284-358G>T | XP_011529428.1:n.284-358G>T | |
NM_000132.4:c.389-358G>T MANE Select | NP_000123.1:n.389-358G>T |