HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868619C>T , CM000673.2:g.65868619C>T | GRCh38 |
NC_000011.9:g.65636090C>T , CM000673.1:g.65636090C>T | GRCh37 |
NC_000011.8:g.65392666C>T | NCBI36 |
NG_012304.2:g.9316G>A | |
NG_053116.1:g.13558C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.738G>A MANE Select | ENSP00000309953.6:p.Glu246= | |
ENST00000307998.10:c.738G>A | ENSP00000309953.6:p.Glu246= | |
ENST00000526628.5:n.1304G>A | ||
ENST00000527969.1:n.1423G>A | ||
ENST00000528176.5:c.738G>A | ENSP00000434151.1:p.Glu246= | |
ENST00000531005.5:n.1732G>A | ||
ENST00000531972.5:c.738G>A | ENSP00000435295.1:p.Glu246= | |
ENST00000532084.5:n.164G>A | ||
NM_016938.4:c.738G>A | NP_058634.4:p.Glu246= | |
NR_037718.1:n.997G>A | ||
NM_016938.5:c.738G>A MANE Select | NP_058634.4:p.Glu246= | |
NR_037718.2:n.863G>A |