HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978142A>G , CM000674.2:g.14978142A>G | GRCh38 |
NC_000012.11:g.15131076A>G , CM000674.1:g.15131076A>G | GRCh37 |
NC_000012.10:g.15022343A>G | NCBI36 |
NG_016859.1:g.10121A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.130A>G MANE Select | ENSP00000266395.2:p.Lys44Glu | |
ENST00000266395.2:c.130A>G | ENSP00000266395.2:p.Lys44Glu | |
NM_006205.2:c.130A>G | NP_006196.1:p.Lys44Glu | |
XR_931376.1:n.175+11345T>C | ||
XM_017019431.2:c.130A>G | XP_016874920.1:p.Lys44Glu | |
XR_931376.2:n.389+11345T>C | ||
NM_006205.3:c.130A>G MANE Select | NP_006196.1:p.Lys44Glu |