HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887326A>C , CM000664.2:g.43887326A>C | GRCh38 |
NC_000002.11:g.44114465A>C , CM000664.1:g.44114465A>C | GRCh37 |
NC_000002.10:g.43967969A>C | NCBI36 |
NG_008247.1:g.113680T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2226T>G | ||
ENST00000684454.1:n.9323T>G | ||
ENST00000260665.12:c.*1274T>G MANE Select | ENSP00000260665.7:n.*1274T>G | |
ENST00000260665.11:c.*1274T>G | ENSP00000260665.7:n.*1274T>G | |
NM_133259.3:c.*1274T>G | NP_573566.2:n.*1274T>G | |
XR_002958896.1:n.5641T>G | ||
NM_133259.4:c.*1274T>G MANE Select | NP_573566.2:n.*1274T>G |