HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12844192A>C , CM000686.2:g.12844192A>C | GRCh38 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.6568+999A>C | ENSP00000498372.1:n.6568+999A>C | |
ENST00000338981.7:c.6568+999A>C MANE Select | ENSP00000342812.3:n.6568+999A>C | |
ENST00000426564.6:n.6595+999A>C | ||
NM_004654.3:c.6568+999A>C | NP_004645.2:n.6568+999A>C | |
XM_011531469.1:c.6568+999A>C | XP_011529771.1:n.6568+999A>C | |
XM_011531470.1:c.6334+999A>C | XP_011529772.1:n.6334+999A>C | |
XM_017030078.2:c.6583+999A>C | XP_016885567.1:n.6583+999A>C | |
NM_004654.4:c.6568+999A>C MANE Select | NP_004645.2:n.6568+999A>C |