HGVS | Genome Assembly |
---|---|
NC_000011.10:g.86954840G>A , CM000673.2:g.86954840G>A | GRCh38 |
NC_000011.9:g.86665882G>A , CM000673.1:g.86665882G>A | GRCh37 |
NC_000011.8:g.86343530G>A | NCBI36 |
NG_011752.1:g.5552C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000531380.2:c.246C>T MANE Select | ENSP00000434034.1:p.Phe82= | |
ENST00000531380.1:c.246C>T | ENSP00000434034.1:p.Phe82= | |
NM_012193.3:c.246C>T | NP_036325.2:p.Phe82= | |
NM_012193.4:c.246C>T MANE Select | NP_036325.2:p.Phe82= |