HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180238A>C , CM000681.2:g.15180238A>C | GRCh38 |
NC_000019.9:g.15291049A>C , CM000681.1:g.15291049A>C | GRCh37 |
NC_000019.8:g.15152049A>C | NCBI36 |
NG_009819.1:g.25744T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263388.7:c.3161T>G MANE Select | ENSP00000263388.1:p.Leu1054Arg | |
ENST00000263388.6:c.3161T>G | ENSP00000263388.1:p.Leu1054Arg | |
ENST00000601011.1:c.3002T>G | ENSP00000473138.1:p.Leu1001Arg | |
NM_000435.2:c.3161T>G | NP_000426.2:p.Leu1054Arg | |
XM_005259924.3:c.3005T>G | XP_005259981.1:p.Leu1002Arg | |
XM_005259924.4:c.3005T>G | XP_005259981.1:p.Leu1002Arg | |
NM_000435.3:c.3161T>G MANE Select | NP_000426.2:p.Leu1054Arg |