HGVS | Genome Assembly |
---|---|
NC_000005.10:g.154477562C>G , CM000667.2:g.154477562C>G | GRCh38 |
NC_000005.9:g.153857122C>G , CM000667.1:g.153857122C>G | GRCh37 |
NC_000005.8:g.153837315C>G | NCBI36 |
NG_052889.1:g.5703G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231121.3:c.447G>C MANE Select | ENSP00000231121.2:p.Val149= | |
ENST00000231121.2:c.447G>C | ENSP00000231121.2:p.Val149= | |
NM_004821.2:c.447G>C | NP_004812.1:p.Val149= | |
XM_005268531.1:c.447G>C | XP_005268588.1:p.Val149= | |
NM_004821.3:c.447G>C MANE Select | NP_004812.1:p.Val149= |