HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994501A>G , CM000667.2:g.148994501A>G | GRCh38 |
NC_000005.9:g.148374064A>G , CM000667.1:g.148374064A>G | GRCh37 |
NC_000005.8:g.148354257A>G | NCBI36 |
NG_007947.2:g.73674T>C , LRG_269:g.73674T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000515425.6:c.*10210T>C MANE Select | ENSP00000423660.1:n.*10210T>C | |
ENST00000504690.5:c.*12+9225T>C | ENSP00000425627.1:n.*12+9225T>C | |
ENST00000510350.1:n.231+12380T>C | ||
NM_024577.3:c.*10210T>C , LRG_269t1:c.*10210T>C | NP_078853.2:n.*10210T>C | |
NM_024577.4:c.*10210T>C MANE Select | NP_078853.2:n.*10210T>C |