HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475025T>A , CM000684.2:g.32475025T>A | GRCh38 |
NC_000022.10:g.32871012T>A , CM000684.1:g.32871012T>A | GRCh37 |
NC_000022.9:g.31201012T>A | NCBI36 |
NG_016001.1:g.5306T>A | |
NG_016001.2:g.5306T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.23T>A MANE Select | ENSP00000266087.7:p.Leu8Gln | |
ENST00000266087.11:c.23T>A | ENSP00000266087.7:p.Leu8Gln | |
ENST00000420700.5:c.23T>A | ENSP00000406155.1:p.Leu8Gln | |
ENST00000425028.5:c.23T>A | ENSP00000395823.1:p.Leu8Gln | |
ENST00000492535.1:n.11T>A | ||
NM_012179.3:c.23T>A | NP_036311.3:p.Leu8Gln | |
XM_011530106.1:c.-151T>A | XP_011528408.1:n.-151T>A | |
XM_024452207.1:c.-168T>A | XP_024307975.1:n.-168T>A | |
NM_012179.4:c.23T>A MANE Select | NP_036311.3:p.Leu8Gln |