HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3770679A>C , CM000681.2:g.3770679A>C | GRCh38 |
NC_000019.9:g.3770677A>C , CM000681.1:g.3770677A>C | GRCh37 |
NC_000019.8:g.3721677A>C | NCBI36 |
NG_011565.1:g.6543T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000555633.3:c.497T>G MANE Select | ENSP00000450456.3:p.Leu166Arg | |
ENST00000555633.2:c.497T>G | ENSP00000450456.2:p.Leu166Arg | |
ENST00000555978.5:c.497T>G | ENSP00000450687.2:p.Leu166Arg | |
NM_032753.3:c.497T>G | NP_116142.1:p.Leu166Arg | |
XM_005259662.1:c.635T>G | XP_005259719.1:p.Leu212Arg | |
NM_001319074.1:c.635T>G | NP_001306003.1:p.Leu212Arg | |
NM_001319074.4:c.497T>G MANE Select | NP_001306003.2:p.Leu166Arg | |
NM_032753.4:c.497T>G | NP_116142.1:p.Leu166Arg |