HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933987T>C , CM000681.2:g.7933987T>C | GRCh38 |
NC_000019.9:g.7998872T>C , CM000681.1:g.7998872T>C | GRCh37 |
NC_000019.8:g.7904872T>C | NCBI36 |
NG_051180.1:g.14837A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.560A>G MANE Select | ENSP00000270538.2:p.Lys187Arg | |
ENST00000270538.7:c.560A>G | ENSP00000270538.2:p.Lys187Arg | |
ENST00000595831.5:c.547A>G | ||
ENST00000595876.5:c.*248A>G | ENSP00000471596.1:n.*248A>G | |
ENST00000597926.1:c.464A>G | ENSP00000469389.1:p.Lys155Arg | |
ENST00000600748.5:n.545A>G | ||
NM_006351.3:c.560A>G | NP_006342.2:p.Lys187Arg | |
NM_006351.4:c.560A>G MANE Select | NP_006342.2:p.Lys187Arg |