HGVS | Genome Assembly |
---|---|
NC_000010.11:g.124960947A>C , CM000672.2:g.124960947A>C | GRCh38 |
NC_000010.10:g.126649516A>C , CM000672.1:g.126649516A>C | GRCh37 |
NC_000010.9:g.126639506A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359653.4:c.815-5647A>C MANE Select | ENSP00000352676.4:n.815-5647A>C | |
NM_017580.2:c.815-5647A>C | NP_060050.2:n.815-5647A>C | |
XM_005269925.3:c.893-5647A>C | XP_005269982.1:n.893-5647A>C | |
XM_005269926.3:c.815-5647A>C | XP_005269983.1:n.815-5647A>C | |
XM_006717907.1:c.893-5647A>C | XP_006717970.1:n.893-5647A>C | |
XM_006717907.2:c.893-5647A>C | XP_006717970.1:n.893-5647A>C | |
XM_017016358.2:c.-286-1340A>C | XP_016871847.1:n.-286-1340A>C | |
NM_017580.3:c.815-5647A>C MANE Select | NP_060050.2:n.815-5647A>C |