HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659178T>G , CM000685.2:g.136659178T>G | GRCh38 |
NC_000023.10:g.135741337T>G , CM000685.1:g.135741337T>G | GRCh37 |
NC_000023.9:g.135569003T>G | NCBI36 |
NG_007280.1:g.16002T>G , LRG_141:g.16002T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*167T>G | ENSP00000512122.1:n.*167T>G | |
ENST00000695725.1:c.*104T>G | ENSP00000512123.1:n.*104T>G | |
ENST00000695726.1:n.2517T>G | ||
ENST00000695729.1:n.3352T>G | ||
ENST00000370629.7:c.549T>G MANE Select | ENSP00000359663.2:p.Ala183= | |
ENST00000370628.2:c.486T>G | ENSP00000359662.2:p.Ala162= | |
ENST00000370629.6:c.549T>G | ENSP00000359663.2:p.Ala183= | |
NM_000074.2:c.549T>G , LRG_141t1:c.549T>G | NP_000065.1:p.Ala183= | |
NM_000074.3:c.549T>G MANE Select | NP_000065.1:p.Ala183= |