HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827575G= , CM000667.2:g.148827575G= | GRCh38 |
NC_000005.9:g.148207138G= , CM000667.1:g.148207138G= | GRCh37 |
NC_000005.8:g.148187331G= | NCBI36 |
NG_016421.1:g.5983G= | |
NG_016421.2:g.5983G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.744G= MANE Select | ENSP00000305372.4:p.Val248= | |
ENST00000305988.5:c.744G= | ENSP00000305372.4:p.Val248= | |
NM_000024.5:c.744G= | NP_000015.1:p.Val248= | |
NM_000024.6:c.744G= MANE Select | NP_000015.2:p.Val248= |