HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574067T>C , CM000685.2:g.47574067T>C | GRCh38 |
NC_000023.10:g.47433466T>C , CM000685.1:g.47433466T>C | GRCh37 |
NC_000023.9:g.47318410T>C | NCBI36 |
NG_008437.1:g.50791A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1917A>G MANE Select | ENSP00000295987.7:p.Lys639= | |
ENST00000340666.5:c.1917A>G | ENSP00000343206.4:p.Lys639= | |
ENST00000640721.1:c.70+621A>G | ENSP00000492857.1:n.70+621A>G | |
ENST00000295987.11:c.1917A>G | ENSP00000295987.7:p.Lys639= | |
ENST00000340666.4:c.1917A>G | ENSP00000343206.4:p.Lys639= | |
NM_006950.3:c.1917A>G MANE Select | NP_008881.2:p.Lys639= | |
NM_133499.2:c.1917A>G | NP_598006.1:p.Lys639= |