HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965304C>T , CM000681.2:g.48965304C>T | GRCh38 |
NC_000019.9:g.49468561C>T , CM000681.1:g.49468561C>T | GRCh37 |
NC_000019.8:g.54160373C>T | NCBI36 |
NG_008152.1:g.4996C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.10:c.-204C>T | ENSP00000366525.2:n.-204C>T | |
XM_024451447.1:c.307C>T | XP_024307215.1:p.Pro103Ser |