HGVS | Genome Assembly |
---|---|
NC_000019.10:g.44919330A>G , CM000681.2:g.44919330A>G | GRCh38 |
NC_000019.9:g.45422587A>G , CM000681.1:g.45422587A>G | GRCh37 |
NC_000019.8:g.50114427A>G | NCBI36 |
NG_012859.1:g.9667A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000592535.6:c.*100A>G MANE Select | ENSP00000468276.2:n.*100A>G | |
ENST00000586638.5:c.*107A>G | ENSP00000466146.1:n.*107A>G | |
ENST00000588750.5:c.*100A>G | ENSP00000465356.1:n.*100A>G | |
ENST00000588802.5:c.*100A>G | ENSP00000468029.1:n.*100A>G | |
ENST00000589781.1:c.*126A>G | ENSP00000467504.1:n.*126A>G | |
ENST00000590334.5:c.*221A>G | ENSP00000465190.1:n.*221A>G | |
ENST00000592176.1:c.*352A>G | ENSP00000466227.1:n.*352A>G | |
ENST00000592885.5:c.*107A>G | ENSP00000467368.1:n.*107A>G | |
NM_001645.3:c.*100A>G | NP_001636.1:n.*100A>G | |
XM_005258855.2:c.*100A>G | XP_005258912.1:n.*100A>G | |
NM_001321065.1:c.*100A>G | NP_001307994.1:n.*100A>G | |
NM_001321066.1:c.*100A>G | NP_001307995.1:n.*100A>G | |
NM_001645.4:c.*100A>G | NP_001636.1:n.*100A>G | |
NM_001321065.2:c.*100A>G | NP_001307994.1:n.*100A>G | |
NM_001321066.2:c.*100A>G | NP_001307995.1:n.*100A>G | |
NM_001645.5:c.*100A>G MANE Select | NP_001636.1:n.*100A>G | |
NM_001379687.1:c.*107A>G | NP_001366616.1:n.*107A>G |