HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115768310C>G , CM000663.2:g.115768310C>G | GRCh38 |
NC_000001.10:g.116310931C>G , CM000663.1:g.116310931C>G | GRCh37 |
NC_000001.9:g.116112454C>G | NCBI36 |
NG_008802.1:g.5496G>C , LRG_404:g.5496G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.-45G>C | ENSP00000518226.1:n.-45G>C | |
ENST00000261448.6:c.232G>C MANE Select | ENSP00000261448.5:p.Glu78Gln | |
ENST00000261448.5:c.232G>C | ENSP00000261448.5:p.Glu78Gln | |
NM_001232.3:c.232G>C , LRG_404t1:c.232G>C | NP_001223.2:p.Glu78Gln | |
NM_001232.4:c.232G>C MANE Select | NP_001223.2:p.Glu78Gln |