HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28768751A>G , CM000676.2:g.28768751A>G | GRCh38 |
NC_000014.8:g.29237957A>G , CM000676.1:g.29237957A>G | GRCh37 |
NC_000014.7:g.28307708A>G | NCBI36 |
NG_009367.1:g.6671A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.*2A>G | ENSP00000516406.1:n.*2A>G | |
ENST00000313071.7:c.*2A>G MANE Select | ENSP00000339004.3:n.*2A>G | |
ENST00000313071.6:c.*2A>G | ENSP00000339004.3:n.*2A>G | |
NM_005249.4:c.*2A>G | NP_005240.3:n.*2A>G | |
NM_005249.5:c.*2A>G MANE Select | NP_005240.3:n.*2A>G |