HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165068914A>C , CM000665.2:g.165068914A>C | GRCh38 |
NC_000003.11:g.164786702A>C , CM000665.1:g.164786702A>C | GRCh37 |
NC_000003.10:g.166269396A>C | NCBI36 |
NG_017043.1:g.14582T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.374-83T>G MANE Select | ENSP00000264382.3:n.374-83T>G | |
ENST00000264382.7:c.374-83T>G | ENSP00000264382.3:n.374-83T>G | |
ENST00000476593.1:c.*249-83T>G | ENSP00000419450.1:n.*249-83T>G | |
NM_001041.3:c.374-83T>G | NP_001032.2:n.374-83T>G | |
XM_011513078.1:c.275-83T>G | XP_011511380.1:n.275-83T>G | |
XM_011513078.2:c.275-83T>G | XP_011511380.1:n.275-83T>G | |
NM_001041.4:c.374-83T>G MANE Select | NP_001032.2:n.374-83T>G |