HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981775T>G , CM000674.2:g.48981775T>G | GRCh38 |
NC_000012.11:g.49375558T>G , CM000674.1:g.49375558T>G | GRCh37 |
NC_000012.10:g.47661825T>G | NCBI36 |
NG_033141.1:g.8323T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*135T>G MANE Select | ENSP00000293549.3:n.*135T>G | |
NM_005430.3:c.*135T>G | NP_005421.1:n.*135T>G | |
NM_005430.4:c.*135T>G MANE Select | NP_005421.1:n.*135T>G |