HGVS | Genome Assembly |
---|---|
NC_000003.12:g.13854823G>C , CM000665.2:g.13854823G>C | GRCh38 |
NC_000003.11:g.13896320G>C , CM000665.1:g.13896320G>C | GRCh37 |
NC_000003.10:g.13871321G>C | NCBI36 |
NG_008088.1:g.30299C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285018.5:c.299-20C>G MANE Select | ENSP00000285018.4:n.299-20C>G | |
ENST00000285018.4:c.299-20C>G | ENSP00000285018.4:n.299-20C>G | |
NM_004625.3:c.299-20C>G | NP_004616.2:n.299-20C>G | |
XM_011534090.1:c.98-20C>G | XP_011532392.1:n.98-20C>G | |
XM_011534091.1:c.98-20C>G | XP_011532393.1:n.98-20C>G | |
XM_011534091.2:c.98-20C>G | XP_011532393.1:n.98-20C>G | |
NM_004625.4:c.299-20C>G MANE Select | NP_004616.2:n.299-20C>G |