HGVS | Genome Assembly |
---|---|
NC_000002.12:g.210195339C>G , CM000664.2:g.210195339C>G | GRCh38 |
NC_000002.11:g.211060063C>G , CM000664.1:g.211060063C>G | GRCh37 |
NC_000002.10:g.210768308C>G | NCBI36 |
NG_008002.1:g.35153G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233710.4:c.985-1G>C MANE Select | ENSP00000233710.3:n.985-1G>C | |
ENST00000652584.1:n.1213-1G>C | ||
ENST00000233710.3:c.985-1G>C | ENSP00000233710.3:n.985-1G>C | |
NM_001608.3:c.985-1G>C | NP_001599.1:n.985-1G>C | |
XM_005246517.3:c.922-1G>C | XP_005246574.1:n.922-1G>C | |
XM_005246517.4:c.922-1G>C | XP_005246574.1:n.922-1G>C | |
XM_017003955.1:c.562-1G>C | XP_016859444.1:n.562-1G>C | |
NM_001608.4:c.985-1G>C MANE Select | NP_001599.1:n.985-1G>C |