HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47573045A>C , CM000685.2:g.47573045A>C | GRCh38 |
NC_000023.10:g.47432444A>C , CM000685.1:g.47432444A>C | GRCh37 |
NC_000023.9:g.47317388A>C | NCBI36 |
NG_008437.1:g.51813T>G | |
NG_016339.1:g.16929A>C | |
NG_016339.2:g.16929A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1983-46T>G MANE Select | ENSP00000295987.7:n.1983-46T>G | |
ENST00000340666.5:c.1983-84T>G | ENSP00000343206.4:n.1983-84T>G | |
ENST00000640721.1:c.71-84T>G | ENSP00000492857.1:n.71-84T>G | |
ENST00000295987.11:c.1983-46T>G | ENSP00000295987.7:n.1983-46T>G | |
ENST00000340666.4:c.1983-84T>G | ENSP00000343206.4:n.1983-84T>G | |
NM_006950.3:c.1983-46T>G MANE Select | NP_008881.2:n.1983-46T>G | |
NM_133499.2:c.1983-84T>G | NP_598006.1:n.1983-84T>G |