HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395163C>G , CM000667.2:g.128395163C>G | GRCh38 |
NC_000005.9:g.127730856C>G , CM000667.1:g.127730856C>G | GRCh37 |
NC_000005.8:g.127758755C>G | NCBI36 |
NG_008750.1:g.147880G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703787.1:n.897G>C | ||
ENST00000262464.9:c.1190G>C MANE Select | ENSP00000262464.4:p.Gly397Ala | |
ENST00000262464.8:c.1190G>C | ENSP00000262464.4:p.Gly397Ala | |
ENST00000508053.5:c.1190G>C | ENSP00000424571.1:p.Gly397Ala | |
ENST00000508989.5:c.1091G>C | ENSP00000425596.1:p.Gly364Ala | |
ENST00000619499.4:c.1187G>C | ENSP00000482132.1:p.Gly396Ala | |
NM_001999.3:c.1190G>C | NP_001990.2:p.Gly397Ala | |
XM_017009228.2:c.1079-1795G>C | XP_016864717.1:n.1079-1795G>C | |
NM_001999.4:c.1190G>C MANE Select | NP_001990.2:p.Gly397Ala |