HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73683020G>C , CM000669.2:g.73683020G>C | GRCh38 |
NC_000007.13:g.73097350G>C , CM000669.1:g.73097350G>C | GRCh37 |
NC_000007.12:g.72735286G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395176.3:c.404C>G MANE Select | ENSP00000378605.1:p.Pro135Arg | |
ENST00000395176.2:c.404C>G | ENSP00000378605.1:p.Pro135Arg | |
NM_032317.2:c.404C>G | NP_115693.2:p.Pro135Arg | |
NM_032317.3:c.404C>G MANE Select | NP_115693.2:p.Pro135Arg |