HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878781T>G , CM000664.2:g.240878781T>G | GRCh38 |
NC_000002.11:g.241818198T>G , CM000664.1:g.241818198T>G | GRCh37 |
NC_000002.10:g.241466871T>G | NCBI36 |
NG_008005.1:g.15037T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.1139T>G MANE Select | ENSP00000302620.3:p.Leu380Arg | |
ENST00000307503.3:c.1139T>G | ENSP00000302620.3:p.Leu380Arg | |
ENST00000470255.1:n.917T>G | ||
NM_000030.2:c.1139T>G | NP_000021.1:p.Leu380Arg | |
NM_000030.3:c.1139T>G MANE Select | NP_000021.1:p.Leu380Arg |