HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475070T>G , CM000684.2:g.32475070T>G | GRCh38 |
NC_000022.10:g.32871057T>G , CM000684.1:g.32871057T>G | GRCh37 |
NC_000022.9:g.31201057T>G | NCBI36 |
NG_016001.1:g.5351T>G | |
NG_016001.2:g.5351T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266087.12:c.68T>G MANE Select | ENSP00000266087.7:p.Leu23Arg | |
ENST00000266087.11:c.68T>G | ENSP00000266087.7:p.Leu23Arg | |
ENST00000420700.5:c.68T>G | ENSP00000406155.1:p.Leu23Arg | |
ENST00000425028.5:c.68T>G | ENSP00000395823.1:p.Leu23Arg | |
ENST00000492535.1:n.56T>G | ||
NM_012179.3:c.68T>G | NP_036311.3:p.Leu23Arg | |
XM_011530106.1:c.-106T>G | XP_011528408.1:n.-106T>G | |
XM_024452207.1:c.-123T>G | XP_024307975.1:n.-123T>G | |
NM_012179.4:c.68T>G MANE Select | NP_036311.3:p.Leu23Arg |