HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951817T>G , CM000670.2:g.19951817T>G | GRCh38 |
NC_000008.10:g.19809328T>G , CM000670.1:g.19809328T>G | GRCh37 |
NC_000008.9:g.19853608T>G | NCBI36 |
NG_008855.1:g.17747T>G | |
NG_008855.2:g.55101T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.298T>G MANE Select | ENSP00000497642.1:p.Tyr100Asp | |
ENST00000311322.8:c.298T>G | ENSP00000309757.6:p.Tyr100Asp | |
ENST00000520959.5:c.70T>G | ENSP00000428496.1:p.Tyr24Asp | |
ENST00000521994.1:n.555T>G | ||
ENST00000522701.5:c.298T>G | ENSP00000428557.1:p.Tyr100Asp | |
ENST00000524029.5:c.298T>G | ENSP00000428237.1:p.Tyr100Asp | |
NM_000237.2:c.298T>G | NP_000228.1:p.Tyr100Asp | |
NM_000237.3:c.298T>G MANE Select | NP_000228.1:p.Tyr100Asp |