HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23412749A>G , CM000676.2:g.23412749A>G | GRCh38 |
NC_000014.8:g.23881958A>G , CM000676.1:g.23881958A>G | GRCh37 |
NC_000014.7:g.22951798A>G | NCBI36 |
NG_007884.1:g.27913T>C , LRG_384:g.27913T>C | |
NG_023444.1:g.529T>C , LRG_389:g.529T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.*105T>C MANE Select | ENSP00000347507.3:n.*105T>C | |
ENST00000355349.3:c.*105T>C | ENSP00000347507.3:n.*105T>C | |
NM_000257.3:c.*105T>C | NP_000248.2:n.*105T>C | |
XM_017021340.1:c.*105T>C | XP_016876829.1:n.*105T>C | |
NM_000257.4:c.*105T>C MANE Select | NP_000248.2:n.*105T>C |