HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33004590T>C , CM000668.2:g.33004590T>C | GRCh38 |
NC_000006.11:g.32972367T>C , CM000668.1:g.32972367T>C | GRCh37 |
NC_000006.10:g.33080345T>C | NCBI36 |
NG_012007.1:g.10023A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229829.7:c.*2248A>G MANE Select | ENSP00000229829.3:n.*2248A>G | |
ENST00000229829.6:c.*2248A>G | ENSP00000229829.3:n.*2248A>G | |
NM_002119.3:c.*2248A>G | NP_002110.1:n.*2248A>G | |
NM_002119.4:c.*2248A>G MANE Select | NP_002110.1:n.*2248A>G |