HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827330T>G , CM000667.2:g.148827330T>G | GRCh38 |
NC_000005.9:g.148206893T>G , CM000667.1:g.148206893T>G | GRCh37 |
NC_000005.8:g.148187086T>G | NCBI36 |
NG_016421.1:g.5738T>G | |
NG_016421.2:g.5738T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.499T>G MANE Select | ENSP00000305372.4:p.Leu167Val | |
ENST00000305988.5:c.499T>G | ENSP00000305372.4:p.Leu167Val | |
NM_000024.5:c.499T>G | NP_000015.1:p.Leu167Val | |
NM_000024.6:c.499T>G MANE Select | NP_000015.2:p.Leu167Val |