HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353300T>C , CM000674.2:g.69353300T>C | GRCh38 |
NC_000012.11:g.69747080T>C , CM000674.1:g.69747080T>C | GRCh37 |
NC_000012.10:g.68033347T>C | NCBI36 |
NG_008195.1:g.9947T>C , LRG_768:g.9947T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*81T>C MANE Select | ENSP00000261267.2:n.*81T>C | |
ENST00000261267.6:c.*81T>C | ENSP00000261267.2:n.*81T>C | |
ENST00000549690.1:c.*35T>C | ENSP00000449898.1:n.*35T>C | |
NM_000239.2:c.*81T>C , LRG_768t1:c.*81T>C | NP_000230.1:n.*81T>C | |
NM_000239.3:c.*81T>C MANE Select | NP_000230.1:n.*81T>C |