HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763914G>C , CM000674.2:g.57763914G>C | GRCh38 |
NC_000012.11:g.58157697G>C , CM000674.1:g.58157697G>C | GRCh37 |
NC_000012.10:g.56443964G>C | NCBI36 |
NG_007076.1:g.8280C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1297-106C>G | ENSP00000518840.1:n.1297-106C>G | |
ENST00000713545.1:c.*221-106C>G | ENSP00000518841.1:n.*221-106C>G | |
ENST00000228606.9:c.1216-106C>G MANE Select | ENSP00000228606.4:n.1216-106C>G | |
ENST00000228606.8:c.1216-106C>G | ENSP00000228606.4:n.1216-106C>G | |
ENST00000547344.5:n.1355-106C>G | ||
NM_000785.3:c.1216-106C>G | NP_000776.1:n.1216-106C>G | |
NM_000785.4:c.1216-106C>G MANE Select | NP_000776.1:n.1216-106C>G |