HGVS | Genome Assembly |
---|---|
NC_000004.12:g.46085716A>C , CM000666.2:g.46085716A>C | GRCh38 |
NC_000004.11:g.46087733A>C , CM000666.1:g.46087733A>C | GRCh37 |
NC_000004.10:g.45782490A>C | NCBI36 |
NG_046964.1:g.43350T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295452.5:c.254-1663T>G MANE Select | ENSP00000295452.4:n.254-1663T>G | |
ENST00000295452.4:c.254-1663T>G | ENSP00000295452.4:n.254-1663T>G | |
NM_173536.3:c.254-1663T>G | NP_775807.2:n.254-1663T>G | |
NM_173536.4:c.254-1663T>G MANE Select | NP_775807.2:n.254-1663T>G |