HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539876A>C , CM000663.2:g.100539876A>C | GRCh38 |
NC_000001.10:g.101005432A>C , CM000663.1:g.101005432A>C | GRCh37 |
NC_000001.9:g.100778020A>C | NCBI36 |
NG_053134.1:g.6705A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.910A>C MANE Select | ENSP00000314223.4:p.Ser304Arg | |
ENST00000315033.4:c.910A>C | ENSP00000314223.4:p.Ser304Arg | |
NM_022049.2:c.910A>C | NP_071332.2:p.Ser304Arg | |
NM_022049.3:c.910A>C MANE Select | NP_071332.2:p.Ser304Arg |