HGVS | Genome Assembly |
---|---|
NC_000004.12:g.156971733T>C , CM000666.2:g.156971733T>C | GRCh38 |
NC_000004.11:g.157892885T>C , CM000666.1:g.157892885T>C | GRCh37 |
NC_000004.10:g.158112335T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502773.6:c.-830A>G MANE Select | ENSP00000422464.1:n.-830A>G | |
NM_016205.3:c.-830A>G MANE Select | NP_057289.1:n.-830A>G | |
NR_036641.2:n.67A>G |