HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520143C>T , CM000674.2:g.52520143C>T | GRCh38 |
NC_000012.11:g.52913927C>T , CM000674.1:g.52913927C>T | GRCh37 |
NC_000012.10:g.51200194C>T | NCBI36 |
NG_008297.1:g.5317G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.154G>A MANE Select | ENSP00000252242.4:p.Ala52Thr | |
ENST00000252242.8:c.154G>A | ENSP00000252242.4:p.Ala52Thr | |
ENST00000546577.1:c.154G>A | ENSP00000449651.1:p.Ala52Thr | |
ENST00000549420.1:c.43+111G>A | ENSP00000447209.1:n.43+111G>A | |
ENST00000551275.1:c.154G>A | ENSP00000448041.1:p.Ala52Thr | |
ENST00000552629.5:n.252G>A | ||
NM_000424.3:c.154G>A | NP_000415.2:p.Ala52Thr | |
NM_000424.4:c.154G>A MANE Select | NP_000415.2:p.Ala52Thr |