HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519820G>T , CM000674.2:g.52519820G>T | GRCh38 |
NC_000012.11:g.52913604G>T , CM000674.1:g.52913604G>T | GRCh37 |
NC_000012.10:g.51199871G>T | NCBI36 |
NG_008297.1:g.5640C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.477C>A MANE Select | ENSP00000252242.4:p.Pro159= | |
ENST00000252242.8:c.477C>A | ENSP00000252242.4:p.Pro159= | |
ENST00000549420.1:c.147C>A | ENSP00000447209.1:p.Pro49= | |
ENST00000551275.1:c.372C>A | ENSP00000448041.1:p.Pro124= | |
ENST00000552629.5:n.575C>A | ||
NM_000424.3:c.477C>A | NP_000415.2:p.Pro159= | |
NM_000424.4:c.477C>A MANE Select | NP_000415.2:p.Pro159= |