HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135029042T>G , CM000667.2:g.135029042T>G | GRCh38 |
NC_000005.9:g.134364732T>G , CM000667.1:g.134364732T>G | GRCh37 |
NC_000005.8:g.134392631T>G | NCBI36 |
NG_012114.1:g.10233A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.682A>C MANE Select | ENSP00000265340.6:p.Ser228Arg | |
ENST00000265340.11:c.682A>C | ENSP00000265340.6:p.Ser228Arg | |
ENST00000506438.5:c.682A>C | ENSP00000427542.1:p.Ser228Arg | |
NM_002653.4:c.682A>C | NP_002644.4:p.Ser228Arg | |
NM_002653.5:c.682A>C MANE Select | NP_002644.4:p.Ser228Arg |