HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827209G>C , CM000667.2:g.148827209G>C | GRCh38 |
NC_000005.9:g.148206772G>C , CM000667.1:g.148206772G>C | GRCh37 |
NC_000005.8:g.148186965G>C | NCBI36 |
NG_016421.1:g.5617G>C | |
NG_016421.2:g.5617G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.378G>C MANE Select | ENSP00000305372.4:p.Val126= | |
ENST00000305988.5:c.378G>C | ENSP00000305372.4:p.Val126= | |
NM_000024.5:c.378G>C | NP_000015.1:p.Val126= | |
NM_000024.6:c.378G>C MANE Select | NP_000015.2:p.Val126= |