HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475055A>C , CM000684.2:g.32475055A>C | GRCh38 |
NC_000022.10:g.32871042A>C , CM000684.1:g.32871042A>C | GRCh37 |
NC_000022.9:g.31201042A>C | NCBI36 |
NG_016001.1:g.5336A>C | |
NG_016001.2:g.5336A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.53A>C MANE Select | ENSP00000266087.7:p.Glu18Ala | |
ENST00000266087.11:c.53A>C | ENSP00000266087.7:p.Glu18Ala | |
ENST00000420700.5:c.53A>C | ENSP00000406155.1:p.Glu18Ala | |
ENST00000425028.5:c.53A>C | ENSP00000395823.1:p.Glu18Ala | |
ENST00000492535.1:n.41A>C | ||
NM_012179.3:c.53A>C | NP_036311.3:p.Glu18Ala | |
XM_011530106.1:c.-121A>C | XP_011528408.1:n.-121A>C | |
XM_024452207.1:c.-138A>C | XP_024307975.1:n.-138A>C | |
NM_012179.4:c.53A>C MANE Select | NP_036311.3:p.Glu18Ala |