HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827573G>A , CM000667.2:g.148827573G>A | GRCh38 |
NC_000005.9:g.148207136G>A , CM000667.1:g.148207136G>A | GRCh37 |
NC_000005.8:g.148187329G>A | NCBI36 |
NG_016421.1:g.5981G>A | |
NG_016421.2:g.5981G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.742G>A MANE Select | ENSP00000305372.4:p.Val248Met | |
ENST00000305988.5:c.742G>A | ENSP00000305372.4:p.Val248Met | |
NM_000024.5:c.742G>A | NP_000015.1:p.Val248Met | |
NM_000024.6:c.742G>A MANE Select | NP_000015.2:p.Val248Met |