HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40285496A>C , CM000681.2:g.40285496A>C | GRCh38 |
NC_000019.9:g.40791403A>C , CM000681.1:g.40791403A>C | GRCh37 |
NC_000019.8:g.45483243A>C | NCBI36 |
NG_012038.2:g.4863T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000578123.5:c.-133T>G | ENSP00000462022.1:n.-133T>G | |
XM_011526620.1:c.-133T>G | XP_011524922.1:n.-133T>G |