HGVS | Genome Assembly |
---|---|
NC_000007.14:g.82759398T>C , CM000669.2:g.82759398T>C | GRCh38 |
NC_000007.13:g.82388714T>C , CM000669.1:g.82388714T>C | GRCh37 |
NC_000007.12:g.82226650T>C | NCBI36 |
NG_047145.1:g.408484A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333891.14:c.15289-683A>G MANE Select | ENSP00000334319.8:n.15289-683A>G | |
ENST00000333891.13:c.15289-683A>G | ENSP00000334319.8:n.15289-683A>G | |
NM_033026.5:c.15289-683A>G | NP_149015.2:n.15289-683A>G | |
XM_017012006.2:c.8377-683A>G | XP_016867495.1:n.8377-683A>G | |
XR_001744643.2:n.18241-683A>G | ||
NM_033026.6:c.15289-683A>G MANE Select | NP_149015.2:n.15289-683A>G |