HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204159505C>G , CM000663.2:g.204159505C>G | GRCh38 |
NC_000001.10:g.204128633C>G , CM000663.1:g.204128633C>G | GRCh37 |
NC_000001.9:g.202395256C>G | NCBI36 |
NG_012122.1:g.11833G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.583G>C MANE Select | ENSP00000272190.8:p.Gly195Arg | |
ENST00000638118.1:c.469G>C | ENSP00000490307.1:p.Gly157Arg | |
ENST00000272190.8:c.583G>C | ENSP00000272190.8:p.Gly195Arg | |
NM_000537.3:c.583G>C | NP_000528.1:p.Gly195Arg | |
NM_000537.4:c.583G>C MANE Select | NP_000528.1:p.Gly195Arg |