HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226882C>T , CM000673.2:g.5226882C>T | GRCh38 |
NC_000011.9:g.5248112C>T , CM000673.1:g.5248112C>T | GRCh37 |
NC_000011.8:g.5204688C>T | NCBI36 |
NG_000007.3:g.70734G>A | |
NG_059281.1:g.5190G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.92+48G>A | ENSP00000494175.1:n.92+48G>A | |
ENST00000335295.4:c.92+48G>A MANE Select | ENSP00000333994.3:n.92+48G>A | |
ENST00000380315.2:c.92+48G>A | ENSP00000369671.2:n.92+48G>A | |
ENST00000485743.1:n.143+48G>A | ||
ENST00000633227.1:c.76+64G>A | ENSP00000488004.1:n.76+64G>A | |
NM_000518.4:c.92+48G>A | NP_000509.1:n.92+48G>A | |
NM_000518.5:c.92+48G>A MANE Select | NP_000509.1:n.92+48G>A |