HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353341A>G , CM000674.2:g.69353341A>G | GRCh38 |
NC_000012.11:g.69747121A>G , CM000674.1:g.69747121A>G | GRCh37 |
NC_000012.10:g.68033388A>G | NCBI36 |
NG_008195.1:g.9988A>G , LRG_768:g.9988A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*122A>G MANE Select | ENSP00000261267.2:n.*122A>G | |
ENST00000261267.6:c.*122A>G | ENSP00000261267.2:n.*122A>G | |
ENST00000549690.1:c.*76A>G | ENSP00000449898.1:n.*76A>G | |
NM_000239.2:c.*122A>G , LRG_768t1:c.*122A>G | NP_000230.1:n.*122A>G | |
NM_000239.3:c.*122A>G MANE Select | NP_000230.1:n.*122A>G |