HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594714T>G , CM000679.2:g.56594714T>G | GRCh38 |
NC_000017.10:g.54672075T>G , CM000679.1:g.54672075T>G | GRCh37 |
NC_000017.9:g.52027074T>G | NCBI36 |
NG_011958.1:g.6016T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.491T>G MANE Select | ENSP00000328181.4:p.Leu164Arg | |
ENST00000332822.4:c.491T>G | ENSP00000328181.4:p.Leu164Arg | |
NM_005450.4:c.491T>G | NP_005441.1:p.Leu164Arg | |
NM_005450.6:c.491T>G MANE Select | NP_005441.1:p.Leu164Arg |