HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16949079C>A , CM000679.2:g.16949079C>A | GRCh38 |
NC_000017.10:g.16852393C>A , CM000679.1:g.16852393C>A | GRCh37 |
NC_000017.9:g.16793118C>A | NCBI36 |
NG_007281.1:g.28010G>T , LRG_120:g.28010G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.200-96G>T MANE Select | ENSP00000261652.2:n.200-96G>T | |
ENST00000261652.6:c.200-96G>T | ENSP00000261652.2:n.200-96G>T | |
ENST00000579315.5:c.200-96G>T | ENSP00000464069.1:n.200-96G>T | |
ENST00000581616.2:n.203-96G>T | ||
ENST00000582931.5:n.104-96G>T | ||
ENST00000583789.1:c.62-96G>T | ENSP00000462952.1:n.62-96G>T | |
ENST00000584950.5:c.62-96G>T | ENSP00000463582.1:n.62-96G>T | |
NM_012452.2:c.200-96G>T , LRG_120t1:c.200-96G>T | NP_036584.1:n.200-96G>T | |
NM_012452.3:c.200-96G>T MANE Select | NP_036584.1:n.200-96G>T |