HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624213C>G , CM000679.2:g.41624213C>G | GRCh38 |
NC_000017.10:g.39780465C>G , CM000679.1:g.39780465C>G | GRCh37 |
NC_000017.9:g.37033991C>G | NCBI36 |
NG_008625.1:g.5418G>C | |
NG_009090.2:g.167500G>C , LRG_401:g.167500G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.297G>C MANE Select | ENSP00000308452.8:p.Leu99= | |
ENST00000311208.12:c.297G>C | ENSP00000308452.8:p.Leu99= | |
ENST00000463128.5:c.-312-7G>C | ENSP00000468672.1:n.-312-7G>C | |
ENST00000491673.1:n.363G>C | ||
ENST00000493253.5:n.84G>C | ||
ENST00000540235.5:c.72-22G>C | ENSP00000441751.2:n.72-22G>C | |
ENST00000577817.3:c.252G>C | ENSP00000467418.1:p.Leu84= | |
NM_000422.2:c.297G>C | NP_000413.1:p.Leu99= | |
NM_000422.3:c.297G>C MANE Select | NP_000413.1:p.Leu99= |