HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572941T>G , CM000685.2:g.47572941T>G | GRCh38 |
NC_000023.10:g.47432340T>G , CM000685.1:g.47432340T>G | GRCh37 |
NC_000023.9:g.47317284T>G | NCBI36 |
NG_008437.1:g.51917A>C | |
NG_016339.1:g.16825T>G | |
NG_016339.2:g.16825T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2041A>C MANE Select | ENSP00000295987.7:p.Ser681Arg | |
ENST00000340666.5:c.2003A>C | ENSP00000343206.4:p.Gln668Pro | |
ENST00000640721.1:c.91A>C | ENSP00000492857.1:p.Ser31Arg | |
ENST00000295987.11:c.2041A>C | ENSP00000295987.7:p.Ser681Arg | |
ENST00000340666.4:c.2003A>C | ENSP00000343206.4:p.Gln668Pro | |
NM_006950.3:c.2041A>C MANE Select | NP_008881.2:p.Ser681Arg | |
NM_133499.2:c.2003A>C | NP_598006.1:p.Gln668Pro |