HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721892C>T , CM000668.2:g.42721892C>T | GRCh38 |
NC_000006.11:g.42689630C>T , CM000668.1:g.42689630C>T | GRCh37 |
NC_000006.10:g.42797608C>T | NCBI36 |
NG_009176.1:g.5729G>A | |
NG_009176.2:g.5729G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.443G>A MANE Select | ENSP00000230381.5:p.Gly148Asp | |
ENST00000230381.6:c.443G>A | ENSP00000230381.5:p.Gly148Asp | |
NM_000322.4:c.443G>A | NP_000313.2:p.Gly148Asp | |
XR_427834.2:n.1098G>A | ||
XR_926295.1:n.1098G>A | ||
XR_427834.4:n.1148G>A | ||
XR_926295.3:n.1148G>A | ||
NM_000322.5:c.443G>A MANE Select | NP_000313.2:p.Gly148Asp |