HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115768412G>C , CM000663.2:g.115768412G>C | GRCh38 |
NC_000001.10:g.116311033G>C , CM000663.1:g.116311033G>C | GRCh37 |
NC_000001.9:g.116112556G>C | NCBI36 |
NG_008802.1:g.5394C>G , LRG_404:g.5394C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.-147C>G | ENSP00000518226.1:n.-147C>G | |
ENST00000261448.6:c.130C>G MANE Select | ENSP00000261448.5:p.Gln44Glu | |
ENST00000261448.5:c.130C>G | ENSP00000261448.5:p.Gln44Glu | |
NM_001232.3:c.130C>G , LRG_404t1:c.130C>G | NP_001223.2:p.Gln44Glu | |
NM_001232.4:c.130C>G MANE Select | NP_001223.2:p.Gln44Glu |