HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350035G>C , CM000672.2:g.47350035G>C | GRCh38 |
NC_000010.10:g.48389327C>G , CM000672.1:g.48389327C>G | GRCh37 |
NC_000010.9:g.48009333C>G | NCBI36 |
NG_029718.1:g.6665G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1551G>C MANE Select | ENSP00000463151.1:p.Thr517= | |
ENST00000584701.1:c.1551G>C | ENSP00000463151.1:p.Thr517= | |
NM_002900.2:c.1551G>C | NP_002891.1:p.Thr517= | |
NM_002900.3:c.1551G>C MANE Select | NP_002891.1:p.Thr517= |