HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228058A>C , CM000679.2:g.66228058A>C | GRCh38 |
NC_000017.10:g.64224176A>C , CM000679.1:g.64224176A>C | GRCh37 |
NC_000017.9:g.61654638A>C | NCBI36 |
NG_012045.1:g.6381T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000205948.11:c.203T>G MANE Select | ENSP00000205948.6:p.Leu68Arg | |
ENST00000205948.10:c.203T>G | ENSP00000205948.6:p.Leu68Arg | |
ENST00000577982.1:c.203T>G | ENSP00000464301.1:p.Leu68Arg | |
ENST00000581797.5:c.23T>G | ENSP00000463553.1:p.Leu8Arg | |
NM_000042.2:c.203T>G | NP_000033.2:p.Leu68Arg | |
NM_000042.3:c.203T>G MANE Select | NP_000033.2:p.Leu68Arg |