HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572939G>C , CM000685.2:g.47572939G>C | GRCh38 |
NC_000023.10:g.47432338G>C , CM000685.1:g.47432338G>C | GRCh37 |
NC_000023.9:g.47317282G>C | NCBI36 |
NG_008437.1:g.51919C>G | |
NG_016339.1:g.16823G>C | |
NG_016339.2:g.16823G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2043C>G MANE Select | ENSP00000295987.7:p.Ser681Arg | |
ENST00000340666.5:c.2005C>G | ENSP00000343206.4:p.Pro669Ala | |
ENST00000640721.1:c.93C>G | ENSP00000492857.1:p.Ser31Arg | |
ENST00000295987.11:c.2043C>G | ENSP00000295987.7:p.Ser681Arg | |
ENST00000340666.4:c.2005C>G | ENSP00000343206.4:p.Pro669Ala | |
NM_006950.3:c.2043C>G MANE Select | NP_008881.2:p.Ser681Arg | |
NM_133499.2:c.2005C>G | NP_598006.1:p.Pro669Ala |