HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45997720A>C , CM000683.2:g.45997720A>C | GRCh38 |
NC_000021.8:g.47417634A>C , CM000683.1:g.47417634A>C | GRCh37 |
NC_000021.7:g.46242062A>C | NCBI36 |
NG_008674.1:g.20972A>C , LRG_475:g.20972A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683550.1:n.257A>C | ||
ENST00000361866.8:c.1482A>C MANE Select | ENSP00000355180.3:p.Gly494= | |
ENST00000361866.7:c.1482A>C | ENSP00000355180.3:p.Gly494= | |
ENST00000612273.1:c.1482A>C | ENSP00000483630.1:p.Gly494= | |
NM_001848.2:c.1482A>C , LRG_475t1:c.1482A>C | NP_001839.2:p.Gly494= | |
NM_001848.3:c.1482A>C MANE Select | NP_001839.2:p.Gly494= |