HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8015839T>G , CM000679.2:g.8015839T>G | GRCh38 |
NC_000017.10:g.7919157T>G , CM000679.1:g.7919157T>G | GRCh37 |
NC_000017.9:g.7859882T>G | NCBI36 |
NG_009092.1:g.18170T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.3041T>G MANE Select | ENSP00000254854.4:p.Leu1014Arg | |
ENST00000254854.4:c.3041T>G | ENSP00000254854.4:p.Leu1014Arg | |
NM_000180.3:c.3041T>G | NP_000171.1:p.Leu1014Arg | |
XM_011523816.1:c.3041T>G | XP_011522118.1:p.Leu1014Arg | |
NM_000180.4:c.3041T>G MANE Select | NP_000171.1:p.Leu1014Arg |