HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165068937T>C , CM000665.2:g.165068937T>C | GRCh38 |
NC_000003.11:g.164786725T>C , CM000665.1:g.164786725T>C | GRCh37 |
NC_000003.10:g.166269419T>C | NCBI36 |
NG_017043.1:g.14559A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.374-106A>G MANE Select | ENSP00000264382.3:n.374-106A>G | |
ENST00000264382.7:c.374-106A>G | ENSP00000264382.3:n.374-106A>G | |
ENST00000476593.1:c.*249-106A>G | ENSP00000419450.1:n.*249-106A>G | |
NM_001041.3:c.374-106A>G | NP_001032.2:n.374-106A>G | |
XM_011513078.1:c.275-106A>G | XP_011511380.1:n.275-106A>G | |
XM_011513078.2:c.275-106A>G | XP_011511380.1:n.275-106A>G | |
NM_001041.4:c.374-106A>G MANE Select | NP_001032.2:n.374-106A>G |