HGVS | Genome Assembly |
---|---|
NC_000007.14:g.12233526A>G , CM000669.2:g.12233526A>G | GRCh38 |
NC_000007.13:g.12273152A>G , CM000669.1:g.12273152A>G | GRCh37 |
NC_000007.12:g.12239677A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000444443.6:c.*1551A>G | ENSP00000401302.2:n.*1551A>G | |
ENST00000704417.1:c.*1551A>G | ENSP00000515893.1:n.*1551A>G | |
ENST00000396668.8:c.*1551A>G MANE Select | ENSP00000379902.3:n.*1551A>G | |
ENST00000396667.7:c.*1551A>G | ENSP00000379901.2:n.*1551A>G | |
NM_001134232.1:c.*1551A>G | NP_001127704.1:n.*1551A>G | |
NM_018374.3:c.*1551A>G | NP_060844.2:n.*1551A>G | |
XM_005249789.1:c.*1551A>G | XP_005249846.1:n.*1551A>G | |
NM_001134232.2:c.*1551A>G MANE Select | NP_001127704.1:n.*1551A>G | |
NM_018374.4:c.*1551A>G | NP_060844.2:n.*1551A>G |