HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148826805G>C , CM000667.2:g.148826805G>C | GRCh38 |
NC_000005.9:g.148206368G>C , CM000667.1:g.148206368G>C | GRCh37 |
NC_000005.8:g.148186561G>C | NCBI36 |
NG_016421.1:g.5213G>C | |
NG_016421.2:g.5213G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.-27G>C MANE Select | ENSP00000305372.4:n.-27G>C | |
ENST00000305988.5:c.-27G>C | ENSP00000305372.4:n.-27G>C | |
NM_000024.5:c.-27G>C | NP_000015.1:n.-27G>C | |
NM_000024.6:c.-27G>C MANE Select | NP_000015.2:n.-27G>C |