HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35797511G>C , CM000668.2:g.35797511G>C | GRCh38 |
NC_000006.11:g.35765288G>C , CM000668.1:g.35765288G>C | GRCh37 |
NC_000006.10:g.35873266G>C | NCBI36 |
NG_012184.3:g.5306G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651132.1:c.-255+52G>C | ENSP00000498322.1:n.-255+52G>C | |
XM_011514403.1:c.-135+52G>C | XP_011512705.1:n.-135+52G>C |