HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339487A>G , CM000669.2:g.17339487A>G | GRCh38 |
NC_000007.13:g.17379111A>G , CM000669.1:g.17379111A>G | GRCh37 |
NC_000007.12:g.17345636A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242057.9:c.1662A>G MANE Select | ENSP00000242057.4:p.Arg554= | |
ENST00000637807.1:c.1632A>G | ENSP00000490530.1:p.Arg544= | |
ENST00000642825.1:c.1617A>G | ENSP00000495987.1:p.Arg539= | |
ENST00000242057.8:c.1662A>G | ENSP00000242057.4:p.Arg554= | |
ENST00000463496.1:c.1662A>G | ENSP00000436466.1:p.Arg554= | |
ENST00000492120.1:n.644A>G | ||
NM_001621.4:c.1662A>G | NP_001612.1:p.Arg554= | |
NM_001621.5:c.1662A>G MANE Select | NP_001612.1:p.Arg554= |