HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190405048G>T , CM000665.2:g.190405048G>T | GRCh38 |
NC_000003.11:g.190122837G>T , CM000665.1:g.190122837G>T | GRCh37 |
NC_000003.10:g.191605531G>T | NCBI36 |
NG_008149.1:g.21997G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.382+122G>T MANE Select | ENSP00000264734.3:n.382+122G>T | |
ENST00000456423.2:c.115-4855G>T | ENSP00000414136.2:n.115-4855G>T | |
ENST00000264734.2:c.592+122G>T | ENSP00000264734.2:n.592+122G>T | |
ENST00000456423.1:c.325-4855G>T | ENSP00000414136.1:n.325-4855G>T | |
NM_006580.3:c.592+122G>T | NP_006571.1:n.592+122G>T | |
NM_001378492.1:c.382+122G>T | NP_001365421.1:n.382+122G>T | |
NM_001378493.1:c.382+122G>T | NP_001365422.1:n.382+122G>T | |
NM_006580.4:c.382+122G>T MANE Select | NP_006571.2:n.382+122G>T |