HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213520G>C , CM000667.2:g.1213520G>C | GRCh38 |
NC_000005.9:g.1213635G>C , CM000667.1:g.1213635G>C | GRCh37 |
NC_000005.8:g.1266635G>C | NCBI36 |
NG_008282.1:g.16926G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304460.11:c.721G>C MANE Select | ENSP00000305302.10:p.Gly241Arg | |
ENST00000304460.10:c.721G>C | ENSP00000305302.10:p.Gly241Arg | |
ENST00000515652.5:c.629G>C | ENSP00000425701.1:p.Arg210Thr | |
NM_001003841.2:c.721G>C | NP_001003841.1:p.Gly241Arg | |
NM_001003841.3:c.721G>C MANE Select | NP_001003841.1:p.Gly241Arg |