HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213468G>C , CM000667.2:g.1213468G>C | GRCh38 |
NC_000005.9:g.1213583G>C , CM000667.1:g.1213583G>C | GRCh37 |
NC_000005.8:g.1266583G>C | NCBI36 |
NG_008282.1:g.16874G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.669G>C MANE Select | ENSP00000305302.10:p.Val223= | |
ENST00000304460.10:c.669G>C | ENSP00000305302.10:p.Val223= | |
ENST00000515652.5:c.577G>C | ENSP00000425701.1:p.Val193Leu | |
NM_001003841.2:c.669G>C | NP_001003841.1:p.Val223= | |
NM_001003841.3:c.669G>C MANE Select | NP_001003841.1:p.Val223= |