HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52676293A>C , CM000674.2:g.52676293A>C | GRCh38 |
NC_000012.11:g.53070077A>C , CM000674.1:g.53070077A>C | GRCh37 |
NC_000012.10:g.51356344A>C | NCBI36 |
NG_008364.1:g.9115T>G | |
NG_008364.2:g.9115T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252244.3:c.1457T>G MANE Select | ENSP00000252244.3:p.Leu486Arg | |
ENST00000548765.1:n.531T>G | ||
NM_006121.3:c.1457T>G | NP_006112.3:p.Leu486Arg | |
NM_006121.4:c.1457T>G MANE Select | NP_006112.3:p.Leu486Arg |