HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350350C>T , CM000672.2:g.47350350C>T | GRCh38 |
NC_000010.10:g.48389012G>A , CM000672.1:g.48389012G>A | GRCh37 |
NC_000010.9:g.48009018G>A | NCBI36 |
NG_029718.1:g.6980C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1866C>T MANE Select | ENSP00000463151.1:p.Ala622= | |
ENST00000584701.1:c.1866C>T | ENSP00000463151.1:p.Ala622= | |
NM_002900.2:c.1866C>T | NP_002891.1:p.Ala622= | |
NM_002900.3:c.1866C>T MANE Select | NP_002891.1:p.Ala622= |