HGVS | Genome Assembly |
---|---|
NC_000002.12:g.124499159T>C , CM000664.2:g.124499159T>C | GRCh38 |
NC_000002.11:g.125256736T>C , CM000664.1:g.125256736T>C | GRCh37 |
NC_000002.10:g.124973206T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682447.1:c.1063-5133T>C MANE Select | ENSP00000508115.1:n.1063-5133T>C | |
ENST00000431078.1:c.1060-5133T>C | ENSP00000399013.1:n.1060-5133T>C | |
NM_130773.3:c.1060-5133T>C | NP_570129.1:n.1060-5133T>C | |
XM_006712258.1:c.1063-5133T>C | XP_006712321.1:n.1063-5133T>C | |
XM_017003316.1:c.1063-5133T>C | XP_016858805.1:n.1063-5133T>C | |
NM_001367498.1:c.1063-5133T>C MANE Select | NP_001354427.1:n.1063-5133T>C | |
NM_130773.4:c.1060-5133T>C | NP_570129.1:n.1060-5133T>C |