HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519930A>G , CM000674.2:g.52519930A>G | GRCh38 |
NC_000012.11:g.52913714A>G , CM000674.1:g.52913714A>G | GRCh37 |
NC_000012.10:g.51199981A>G | NCBI36 |
NG_008297.1:g.5530T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.367T>C MANE Select | ENSP00000252242.4:p.Phe123Leu | |
ENST00000252242.8:c.367T>C | ENSP00000252242.4:p.Phe123Leu | |
ENST00000546577.1:c.367T>C | ENSP00000449651.1:p.Phe123Leu | |
ENST00000549420.1:c.44-7T>C | ENSP00000447209.1:n.44-7T>C | |
ENST00000551275.1:c.262T>C | ENSP00000448041.1:p.Phe88Leu | |
ENST00000552629.5:n.465T>C | ||
NM_000424.3:c.367T>C | NP_000415.2:p.Phe123Leu | |
NM_000424.4:c.367T>C MANE Select | NP_000415.2:p.Phe123Leu |